A2ML1
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
06/07/2018
|
A2ML1
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
06/07/2018
|
A2ML1
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
06/07/2018
|
A2ML1
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Disputed
|
06/07/2018
|
A2ML1
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
06/07/2018
|
AARS
|
undetermined early-onset epileptic encephalopathy
|
AR
|
Epilepsy
|
SOP6
|
Limited
|
11/20/2018
|
AASS
|
hyperlysinemia (disease)
|
AR
|
Aminoacidopathy
|
SOP7
|
Moderate
|
06/29/2020
|
ABCC9
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
11/13/2020
|
ABCD1
|
X-linked cerebral adrenoleukodystrophy
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/07/2018
|
ABCG5
|
sitosterolemia
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/10/2020
|
ABCG8
|
sitosterolemia
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/14/2020
|
ABHD12
|
PHARC syndrome
|
AR
|
Hearing Loss
|
SOP5
|
Definitive
|
06/28/2018
|
ACAD8
|
isobutyryl-CoA dehydrogenase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
04/26/2019
|
ACAD9
|
acyl-CoA dehydrogenase 9 deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
03/27/2018
|
ACADL
|
long chain acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Disputed
|
09/25/2018
|
ACADM
|
medium chain acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
01/23/2018
|
ACADS
|
short chain acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
01/23/2018
|
ACADSB
|
2-methylbutyryl-CoA dehydrogenase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
03/22/2019
|
ACADVL
|
very long chain acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
02/20/2018
|
ACAT1
|
beta-ketothiolase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
05/22/2018
|
ACSF3
|
combined malonic and methylmalonic acidemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
10/09/2020
|
ACSL4
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Moderate
|
10/20/2017
|
ACTA1
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
05/01/2020
|
ACTA2
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Definitive
|
09/27/2016
|
ACTC1
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
10/23/2017
|
ACTC1
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Moderate
|
08/12/2020
|
ACTC1
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
03/15/2019
|
ACTG1
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
01/07/2019
|
ACTG1
|
Baraitser-winter syndrome 2
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
01/07/2019
|
ACTN1
|
platelet-type bleeding disorder 15
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
11/25/2020
|
ACTN2
|
intrinsic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP5
|
Moderate
|
08/06/2018
|
ACVRL1
|
telangiectasia, hereditary hemorrhagic, type 2
|
AD
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
08/28/2019
|
ACY1
|
neurological conditions associated with aminoacylase 1 deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
09/25/2020
|
ADA
|
adenosine deaminase deficiency
|
AR
|
SCID-CID
|
SOP7
|
Definitive
|
11/19/2020
|
ADAMTS13
|
congenital thrombotic thrombocytopenic purpura
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
03/25/2020
|
ADAR
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Limited
|
08/27/2020
|
ADCY1
|
autosomal recessive nonsyndromic deafness
|
AR
|
Hearing Loss
|
SOP4
|
Limited
|
05/10/2017
|
ADGRV1
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Disputed
|
03/19/2019
|
ADGRV1
|
Usher syndrome type 2
|
AR
|
Hearing Loss
|
SOP7
|
Definitive
|
02/15/2017
|
ADNP
|
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
04/24/2020
|
ADSL
|
adenylosuccinate lyase deficiency
|
AR
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
09/07/2020
|
AFF2
|
FRAXE intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
10/20/2017
|
AGPS
|
rhizomelic chondrodysplasia punctata
|
AR
|
Peroxisomal Disorders
|
SOP6
|
Definitive
|
10/04/2019
|
AHCY
|
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
|
AR
|
Aminoacidopathy
|
SOP7
|
Moderate
|
06/29/2020
|
AIFM1
|
X-linked hereditary sensory and autonomic neuropathy with deafness
|
XL
|
Hearing Loss
|
SOP6
|
Definitive
|
07/09/2018
|
AKAP9
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Disputed
|
12/15/2020
|
ALDH4A1
|
hyperprolinemia type 2
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
10/23/2020
|
ALDH6A1
|
developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Limited
|
09/27/2019
|
ALDH7A1
|
pyridoxine-dependent epilepsy
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
07/26/2019
|
ALG13
|
undetermined early-onset epileptic encephalopathy
|
XL
|
Epilepsy
|
SOP5
|
Definitive
|
04/26/2018
|
ALG8
|
isolated polycystic liver disease
|
AD
|
Cystic and Ciliopathy Disorders
|
SOP7
|
Limited
|
07/29/2020
|
ALG9
|
cystic kidney disease
|
AD
|
Cystic and Ciliopathy Disorders
|
SOP7
|
Moderate
|
08/28/2020
|
ALK
|
neuroblastoma, susceptibility to, 3
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/21/2019
|
ALMS1
|
Alstrom syndrome
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
02/10/2017
|
ALPK3
|
hypertrophic cardiomyopathy
|
AR
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Strong
|
02/07/2017
|
AMT
|
glycine encephalopathy
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
05/24/2019
|
ANK2
|
Brugada syndrome
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
ANK2
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
12/15/2020
|
ANK2
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Disputed
|
12/15/2020
|
ANKRD1
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/12/2020
|
ANKRD1
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
Limited
|
05/01/2020
|
ANKRD11
|
KBG syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
11/26/2019
|
ANKRD26
|
thrombocytopenia 2
|
AD
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
09/25/2019
|
ANO5
|
autosomal recessive limb-girdle muscular dystrophy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
09/09/2020
|
ANO6
|
Scott syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
05/27/2020
|
AP1S2
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
10/20/2017
|
AP3B1
|
Hermansky-Pudlak syndrome 2
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
02/26/2020
|
AP3D1
|
Hermansky-Pudlak syndrome 10; HPS10
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Limited
|
02/26/2020
|
APC
|
APC-related attenuated familial adenomatous polyposis
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
09/11/2017
|
APOB
|
familial hypobetalipoproteinemia 1
|
SD
|
General Gene Curation
|
SOP7
|
Definitive
|
02/26/2020
|
APOB
|
hypercholesterolemia, autosomal dominant, type b
|
AD
|
General Gene Curation
|
SOP7
|
Definitive
|
11/14/2018
|
AQP1
|
pulmonary arterial hypertension
|
AD
|
Pulmonary Hypertension
|
SOP7
|
Limited
|
01/11/2021
|
AQP5
|
palmoplantar keratoderma, Bothnian type
|
AD
|
UNC Biocuration Core
|
SOP5
|
Moderate
|
07/06/2018
|
ARG1
|
hyperargininemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
ARHGEF10
|
autosomal dominant slowed nerve conduction velocity
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Limited
|
10/05/2020
|
ARHGEF6
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Limited
|
06/28/2018
|
ARHGEF6
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Disputed
|
10/20/2020
|
ARHGEF9
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Moderate
|
11/21/2019
|
ARID1B
|
Coffin-Siris syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
12/04/2019
|
ARL13B
|
Joubert syndrome
|
AR
|
Syndromic Disorders
|
SOP7
|
Definitive
|
06/03/2020
|
ARL2BP
|
retinitis pigmentosa with or without situs inversus
|
AR
|
UNC Biocuration Core
|
SOP5
|
Limited
|
07/06/2018
|
ARPC1B
|
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
ARSE
|
X-linked chondrodysplasia punctata 1
|
XL
|
Syndromic Disorders
|
SOP7
|
Definitive
|
08/25/2020
|
ARX
|
early infantile epileptic encephalopathy
|
XL
|
Epilepsy
|
SOP6
|
Definitive
|
06/21/2019
|
ARX
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
12/01/2020
|
ASL
|
argininosuccinic aciduria
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
09/15/2018
|
ASNS
|
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
ASPA
|
Canavan disease
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
10/08/2020
|
ASS1
|
citrullinemia type I
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
12/27/2018
|
ATF6
|
achromatopsia
|
AR
|
General Gene Curation
|
SOP4
|
Strong
|
11/16/2016
|
ATM
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
07/12/2017
|
ATM
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Moderate
|
08/28/2017
|
ATM
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
07/12/2017
|
ATM
|
ataxia telangiectasia
|
AR
|
Hereditary Cancer
|
SOP7
|
Definitive
|
07/30/2020
|
ATP5MD
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
08/27/2020
|
ATP6V1B1
|
renal tubular acidosis, distal, with progressive nerve deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
12/19/2017
|
ATP7A
|
Menkes disease
|
XLR
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/07/2018
|
ATP7B
|
Wilson disease
|
AR
|
General Gene Curation
|
SOP6
|
Definitive
|
03/27/2019
|
ATRX
|
X-linked intellectual disability-hypotonic face syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/07/2018
|
AUH
|
3-methylglutaconic aciduria type 1
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
AUTS2
|
syndromic intellectual disability
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
09/01/2020
|
AXIN2
|
oligodontia-cancer predisposition syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Moderate
|
06/08/2017
|
BAG3
|
myofibrillar myopathy (disease)
|
AD
|
General Gene Curation
|
SOP4
|
Definitive
|
12/18/2016
|
BAG3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Definitive
|
10/09/2020
|
BAP1
|
BAP1-related tumor predisposition syndrome
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
03/21/2019
|
BARD1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
08/09/2017
|
BARD1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
06/08/2017
|
BARD1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
08/09/2017
|
BCAT2
|
hypervalinemia and hyperleucine-isoleucinemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
07/24/2020
|
BCKDHA
|
maple syrup urine disease type 1A
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
09/14/2018
|
BCKDHB
|
maple syrup urine disease type 1B
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
02/08/2019
|
BCKDK
|
branched-chain keto acid dehydrogenase kinase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
01/18/2019
|
BCL11A
|
Dias-Logan syndrome; DILOS
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
09/13/2020
|
BCOR
|
microphthalmia, syndromic 2
|
XL
|
Syndromic Disorders
|
SOP7
|
Definitive
|
12/17/2020
|
BCS1L
|
Bjornstad syndrome
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
07/09/2018
|
BCS1L
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
09/19/2019
|
BDP1
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
09/11/2017
|
BGN
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
12/22/2016
|
BIN1
|
centronuclear myopathy
|
SD
|
Congenital Myopathies
|
SOP7
|
Definitive
|
04/27/2020
|
BLK
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP7
|
Refuted
|
08/21/2020
|
BLM
|
Bloom syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
BLOC1S3
|
Hermansky-Pudlak syndrome 8
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
09/23/2020
|
BLOC1S6
|
Hermansky-Pudlak syndrome 9
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
09/23/2020
|
BMPR1A
|
generalized juvenile polyposis/juvenile polyposis coli
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
06/12/2017
|
BMPR2
|
pulmonary arterial hypertension
|
AD
|
Pulmonary Hypertension
|
SOP7
|
Definitive
|
12/07/2020
|
BRAF
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Moderate
|
07/24/2018
|
BRAF
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
07/24/2018
|
BRAF
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
Disputed
|
07/24/2018
|
BRAF
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
Limited
|
07/24/2018
|
BRAF
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/25/2018
|
BRCA1
|
breast-ovarian cancer, familial, susceptibility to, 1
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
09/13/2017
|
BRCA1
|
Fanconi anemia, complementation group S
|
AR
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/14/2020
|
BRCA2
|
breast-ovarian cancer, familial, susceptibility to, 2
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
09/13/2017
|
BRCA2
|
Fanconi anemia complementation group D1
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
BRIP1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Refuted
|
05/10/2017
|
BRIP1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
10/12/2016
|
BRIP1
|
Fanconi anemia complementation group j
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/18/2019
|
BRWD3
|
X-linked syndromic intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
09/20/2018
|
BSND
|
Bartter disease type 4a
|
AR
|
Hearing Loss
|
SOP5
|
Definitive
|
07/12/2018
|
BTD
|
biotinidase deficiency
|
AR
|
Hearing Loss
|
SOP7
|
Definitive
|
02/10/2020
|
BTK
|
Bruton-type agammaglobulinemia
|
XL
|
Humoral Defects
|
SOP7
|
Definitive
|
10/20/2020
|
BTK
|
isolated growth hormone deficiency type III
|
XL
|
Humoral Defects
|
SOP7
|
Disputed
|
11/17/2020
|
BUB1B
|
mosaic variegated aneuploidy syndrome 1
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/22/2019
|
C1QB
|
C1Q deficiency
|
AR
|
General Gene Curation
|
SOP4
|
Definitive
|
01/09/2017
|
CA5A
|
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
09/10/2018
|
CABP2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP7
|
Definitive
|
02/06/2020
|
CACNA1C
|
Brugada syndrome
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
CACNA1C
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Moderate
|
04/24/2020
|
CACNA1D
|
sinoatrial node dysfunction and deafness
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
05/01/2018
|
CACNA1H
|
generalised epilepsy
|
AD
|
Epilepsy
|
SOP5
|
Disputed
|
07/31/2018
|
CACNA2D1
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
CACNB2
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
CACNB2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
04/07/2020
|
CACNB4
|
epilepsy
|
AD
|
Epilepsy
|
SOP5
|
Disputed
|
06/22/2018
|
CALM1
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Definitive
|
09/25/2018
|
CALM2
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Definitive
|
09/25/2018
|
CALM3
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Definitive
|
09/25/2018
|
CALR3
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP5
|
Limited
|
08/06/2018
|
CASK
|
X-linked syndromic intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
07/09/2019
|
CASQ2
|
hypertrophic cardiomyopathy
|
AR
|
Hypertrophic Cardiomyopathy
|
SOP4
|
No Reported Evidence
|
01/17/2017
|
CASQ2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
05/01/2020
|
CAV3
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Limited
|
12/15/2020
|
CBL
|
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
|
AD
|
RASopathy
|
SOP7
|
Definitive
|
04/29/2019
|
CBS
|
classic homocystinuria
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
04/12/2019
|
CC2D1A
|
complex neurodevelopmental disorder
|
AR
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
01/08/2020
|
CCDC50
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Limited
|
12/19/2017
|
CCDC78
|
centronuclear myopathy
|
AD
|
Congenital Myopathies
|
SOP7
|
Limited
|
12/09/2019
|
CD164
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Limited
|
03/20/2018
|
CD3E
|
severe combined immunodeficiency (disease)
|
AR
|
General Gene Curation
|
SOP4
|
Definitive
|
01/09/2017
|
CD79A
|
agammaglobulinemia 3, autosomal recessive
|
AR
|
Humoral Defects
|
SOP7
|
Definitive
|
12/15/2020
|
CDC14A
|
hearing impairment and infertile male syndrome
|
AR
|
Hearing Loss
|
SOP7
|
Strong
|
03/11/2020
|
CDC14A
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
02/26/2018
|
CDC73
|
hyperparathyroidism-jaw tumor syndrome
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
CDH1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
08/03/2017
|
CDH1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
06/08/2017
|
CDH1
|
hereditary diffuse gastric adenocarcinoma
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
CDH1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
01/25/2017
|
CDH2
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
07/13/2018
|
CDH23
|
Usher syndrome type 1
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
01/30/2017
|
CDH23
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/22/2018
|
CDK4
|
melanoma, cutaneous malignant, susceptibility to, 3
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
01/13/2020
|
CDKL5
|
CDKL5 disorder
|
XL
|
Rett and Angelman-like Disorders
|
SOP5
|
Definitive
|
07/02/2018
|
CDKN1B
|
hereditary nonpolyposis colon cancer
|
AR
|
Colon Cancer
|
SOP4
|
Limited
|
06/08/2017
|
CDKN1B
|
multiple endocrine neoplasia type 4
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
12/21/2018
|
CDKN2A
|
melanoma-pancreatic cancer syndrome
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/14/2019
|
CEACAM16
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Moderate
|
03/20/2018
|
CEBPA
|
acute myeloid leukemia
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/18/2019
|
CEMIP
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Disputed
|
07/17/2018
|
CEP57
|
mosaic variegated aneuploidy syndrome 2
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/22/2019
|
CEP78
|
cone-rod dystrophy and hearing loss; CRDHL
|
AR
|
Hearing Loss
|
SOP4
|
Strong
|
04/12/2017
|
CFL2
|
nemaline myopathy 7
|
AR
|
Congenital Myopathies
|
SOP6
|
Definitive
|
11/25/2019
|
CHD1L
|
congenital anomaly of kidney and urinary tract
|
AD
|
General Gene Curation
|
SOP4
|
Limited
|
11/18/2016
|
CHD2
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP5
|
Definitive
|
07/18/2018
|
CHD7
|
CHARGE syndrome
|
AD
|
Hearing Loss
|
SOP7
|
Definitive
|
08/23/2018
|
CHD8
|
autism spectrum disorder
|
AD
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
08/27/2018
|
CHEK1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
10/12/2016
|
CHEK1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
10/12/2016
|
CHEK2
|
hereditary nonpolyposis colon cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
03/13/2017
|
CHEK2
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
12/14/2016
|
CHEK2
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
12/14/2016
|
CHM
|
choroideremia
|
XL
|
Retina
|
SOP7
|
Definitive
|
10/26/2020
|
CHRNA2
|
benign familial neonatal-infantile seizures
|
AD
|
Epilepsy
|
SOP7
|
No Reported Evidence
|
01/07/2020
|
CHRNA2
|
epilepsy, nocturnal frontal lobe
|
AD
|
Epilepsy
|
SOP7
|
Limited
|
12/25/2020
|
CHRNA2
|
generalised epilepsy
|
AD
|
Epilepsy
|
SOP7
|
No Reported Evidence
|
01/07/2020
|
CHRNA4
|
epilepsy, nocturnal frontal lobe
|
AD
|
Epilepsy
|
SOP7
|
Definitive
|
02/18/2020
|
CIB2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
02/20/2018
|
CIB2
|
Usher syndrome type 1
|
AR
|
Hearing Loss
|
SOP6
|
Refuted
|
02/19/2019
|
CISD2
|
Wolfram syndrome
|
AR
|
Hearing Loss
|
SOP6
|
Strong
|
03/27/2018
|
CLCN4
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
10/20/2017
|
CLDN14
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/01/2018
|
CLIC5
|
autosomal recessive nonsyndromic deafness
|
AR
|
Hearing Loss
|
SOP4
|
Moderate
|
11/21/2017
|
CLN6
|
neuronal ceroid lipofuscinosis
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
12/01/2020
|
CLN8
|
neuronal ceroid lipofuscinosis
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
09/07/2020
|
CLPB
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Limited
|
11/23/2020
|
CLPP
|
Perrault syndrome 3
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
03/27/2018
|
CLRN1
|
Usher syndrome type 3
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
03/02/2017
|
CNTNAP2
|
autism (disease)
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Refuted
|
09/18/2019
|
COCH
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
01/05/2018
|
COL11A2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
12/20/2018
|
COL11A2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Moderate
|
12/20/2018
|
COL11A2
|
otospondylomegaepiphyseal dysplasia
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
12/20/2018
|
COL11A2
|
otospondylomegaepiphyseal dysplasia
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
12/20/2018
|
COL2A1
|
spondyloepiphyseal dysplasia, Stanescu type
|
AD
|
General Gene Curation
|
SOP4
|
Moderate
|
12/01/2016
|
COL2A1
|
achondrogenesis type II
|
AD
|
Skeletal Disorders
|
SOP7
|
Definitive
|
10/05/2020
|
COL3A1
|
Ehlers-Danlos syndrome, vascular type
|
AD
|
General Gene Curation
|
SOP6
|
Definitive
|
02/27/2019
|
COL4A5
|
Alport syndrome
|
XL
|
Hearing Loss
|
SOP6
|
Definitive
|
03/19/2019
|
COL4A6
|
deafness, X-linked 6
|
XL
|
Hearing Loss
|
SOP6
|
Limited
|
01/16/2018
|
COL9A1
|
Stickler syndrome
|
AR
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
03/26/2018
|
COL9A2
|
Stickler syndrome
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
02/19/2019
|
COL9A3
|
Stickler syndrome
|
AR
|
Hearing Loss
|
SOP7
|
Moderate
|
09/17/2019
|
COX10
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
05/20/2019
|
COX15
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
05/20/2019
|
CPS1
|
carbamoyl phosphate synthetase I deficiency disease
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
10/12/2018
|
CPT1A
|
carnitine palmitoyl transferase 1A deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
01/23/2018
|
CPT2
|
carnitine palmitoyltransferase II deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
03/27/2018
|
CREBBP
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
AD
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/21/2018
|
CRYM
|
autosomal dominant nonsyndromic deafness 40
|
AD
|
Hearing Loss
|
SOP4
|
Limited
|
02/16/2017
|
CSRP3
|
hypertrophic cardiomyopathy 12
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Moderate
|
12/19/2017
|
CSRP3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
11/06/2020
|
CSTB
|
Unverricht-Lundborg syndrome
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
06/16/2020
|
CSTB
|
developmental and epileptic encephalopathy
|
AR
|
Epilepsy
|
SOP7
|
Moderate
|
12/01/2020
|
CTF1
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/12/2020
|
CTH
|
cystathioninuria (disease)
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
06/14/2019
|
CTNNA1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
No Reported Evidence
|
04/24/2017
|
CTNNA3
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
08/06/2019
|
CTSD
|
neuronal ceroid lipofuscinosis
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
11/03/2020
|
CUL3
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
01/16/2021
|
CUL4B
|
X-linked intellectual disability, Cabezas type
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/21/2018
|
CYLD
|
Brooke-Spiegler syndrome
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
DBT
|
maple syrup urine disease
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
10/30/2018
|
DCDC2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP7
|
Limited
|
08/31/2020
|
DDB2
|
xeroderma pigmentosum group E
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
DDX3X
|
X-linked syndromic intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
05/05/2020
|
DDX41
|
DDX41-related hematologic malignancy predisposition syndrome
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
07/30/2020
|
DEPDC5
|
familial focal epilepsy with variable foci
|
AD
|
Epilepsy
|
SOP5
|
Definitive
|
08/24/2018
|
DES
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Moderate
|
09/11/2018
|
DES
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Definitive
|
10/09/2020
|
DES
|
myofibrillar myopathy (disease)
|
SD
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
08/20/2020
|
DHCR7
|
Smith-Lemli-Opitz syndrome
|
AR
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
09/11/2018
|
DHTKD1
|
2-aminoadipic 2-oxoadipic aciduria
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
11/03/2020
|
DIABLO
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Limited
|
12/19/2017
|
DIAPH1
|
diaph1-related sensorineural hearing loss-thrombocytopenia syndrome
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
01/05/2018
|
DIAPH3
|
auditory neuropathy
|
AD
|
Hearing Loss
|
SOP7
|
Limited
|
02/06/2020
|
DICER1
|
pleuropulmonary blastoma
|
AD
|
General Gene Curation
|
SOP4
|
Definitive
|
01/08/2017
|
DIS3L2
|
Perlman syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/21/2019
|
DLAT
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
01/14/2021
|
DLD
|
pyruvate dehydrogenase E3 deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
03/08/2019
|
DLG3
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
08/24/2018
|
DMGDH
|
dimethylglycine dehydrogenase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Limited
|
06/28/2019
|
DMXL2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Limited
|
02/06/2020
|
DNAJB11
|
autosomal dominant polycystic kidney disease
|
AD
|
Cystic and Ciliopathy Disorders
|
SOP7
|
Strong
|
09/09/2020
|
DNAJC12
|
hyperphenylalaninemia, mild, non-bh4-deficient
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
01/11/2021
|
DNM1
|
early infantile epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP4
|
Definitive
|
12/13/2016
|
DNM2
|
autosomal dominant centronuclear myopathy
|
AD
|
Congenital Myopathies
|
SOP6
|
Definitive
|
12/20/2019
|
DNM2
|
Charcot-Marie-Tooth disease
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
10/27/2020
|
DNMT1
|
autosomal dominant cerebellar ataxia, deafness and narcolepsy
|
AD
|
Hearing Loss
|
SOP4
|
Definitive
|
02/10/2017
|
DSC2
|
familial isolated arrhythmogenic right ventricular dysplasia
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Definitive
|
09/14/2018
|
DSG2
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Definitive
|
09/14/2018
|
DSG2
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/07/2020
|
DSP
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Strong
|
08/12/2020
|
DSP
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
04/07/2020
|
DSP
|
arrhythmogenic cardiomyopathy with woolly hair and keratoderma
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Definitive
|
07/12/2019
|
DSPP
|
dentinogenesis imperfecta (disease)
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
04/17/2018
|
DTNA
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/12/2020
|
DYRK1A
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
07/15/2020
|
DYSF
|
autosomal recessive limb-girdle muscular dystrophy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
05/01/2020
|
EARS2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Definitive
|
03/19/2020
|
ECHS1
|
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
10/09/2018
|
EDN3
|
Waardenburg syndrome type 4B
|
AD
|
Hearing Loss
|
SOP5
|
Limited
|
05/30/2018
|
EDN3
|
Waardenburg syndrome type 4B
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
05/08/2018
|
EDNRB
|
Waardenburg syndrome type 4A
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
05/08/2018
|
EDNRB
|
Waardenburg syndrome type 4A
|
AD
|
Hearing Loss
|
SOP6
|
Limited
|
05/08/2018
|
EEF1A2
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
03/19/2019
|
EFEMP2
|
familial thoracic aortic aneurysm and aortic dissection
|
AR
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Moderate
|
12/22/2016
|
EFHC1
|
juvenile myoclonic epilepsy
|
AD
|
Epilepsy
|
SOP5
|
Disputed
|
07/27/2018
|
EFNB1
|
craniofrontonasal syndrome
|
XL
|
Craniofacial Malformations
|
SOP7
|
Definitive
|
10/26/2020
|
EGFR
|
non-small cell lung carcinoma (disease)
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
07/30/2020
|
EHMT1
|
Kleefstra syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
06/07/2018
|
ELANE
|
neutropenia
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/14/2020
|
ELMOD3
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
05/04/2017
|
ENG
|
generalized juvenile polyposis/juvenile polyposis coli
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
12/11/2017
|
ENG
|
hereditary hemorrhagic telangiectasia
|
AD
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
08/28/2019
|
EPCAM
|
colorectal cancer, hereditary nonpolyposis, type 8
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
09/11/2017
|
EPCAM
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
04/12/2017
|
EPHX1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
11/08/2016
|
EPM2A
|
Lafora disease
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
05/23/2020
|
EPS8
|
autosomal recessive nonsyndromic deafness 102
|
AR
|
Hearing Loss
|
SOP7
|
Moderate
|
02/06/2020
|
EPS8L2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP7
|
Moderate
|
02/05/2020
|
ERCC2
|
xeroderma pigmentosum group D
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
ERCC3
|
xeroderma pigmentosum group B
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
ERCC4
|
xeroderma pigmentosum group F
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/14/2019
|
ERCC5
|
xeroderma pigmentosum group G
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
ESPN
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP5
|
Limited
|
09/20/2018
|
ESPN
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
02/27/2018
|
ESRRB
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
04/24/2018
|
ETFA
|
multiple acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
05/22/2018
|
ETFB
|
multiple acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP7
|
Moderate
|
12/16/2020
|
ETFDH
|
multiple acyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
05/22/2018
|
ETHE1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
04/08/2019
|
ETV6
|
thrombocytopenia 5
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
01/22/2020
|
EXO1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Disputed
|
06/08/2017
|
EXT1
|
exostoses, multiple, type 1
|
AD
|
Hereditary Cancer
|
SOP5
|
Definitive
|
06/04/2018
|
EXT2
|
exostoses, multiple, type 2
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
12/21/2018
|
EYA1
|
branchio-oto-renal syndrome
|
AD
|
Hearing Loss
|
SOP5
|
Definitive
|
08/30/2018
|
EYA4
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
01/05/2018
|
EYA4
|
dilated cardiomyopathy 1J
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
11/30/2020
|
F10
|
congenital factor X deficiency
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
11/27/2019
|
F11
|
congenital factor XI deficiency
|
SD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
10/23/2019
|
F12
|
congenital factor XII deficiency
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
01/22/2020
|
F12
|
hereditary angioedema type 3
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
01/23/2020
|
F13A1
|
factor XIII, A subunit, deficiency of
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
F13B
|
factor XIII, b subunit, deficiency of
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
F2
|
congenital prothrombin deficiency
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
06/24/2020
|
F2
|
thrombophilia due to thrombin defect
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
06/24/2020
|
F5
|
congenital factor V deficiency
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
03/25/2020
|
F5
|
thrombophilia due to activated protein C resistance
|
AD
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
09/30/2019
|
F7
|
factor VII deficiency
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
07/24/2019
|
F8
|
hemophilia A
|
XL
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
07/24/2019
|
F9
|
hemophilia B
|
XL
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
05/22/2019
|
F9
|
thrombophilia, X-linked, due to factor 9 defect
|
XL
|
Hemostasis Thrombosis
|
SOP7
|
Limited
|
06/24/2020
|
FAH
|
tyrosinemia type I
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
FAN1
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
10/23/2017
|
FANCA
|
Fanconi anemia complementation group A
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
FANCC
|
Fanconi anemia complementation group C
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
FANCE
|
Fanconi anemia complementation group E
|
AR
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/14/2020
|
FANCF
|
Fanconi anemia complementation group f
|
AR
|
Hereditary Cancer
|
SOP7
|
Definitive
|
07/30/2020
|
FANCG
|
Fanconi anemia complementation group G
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
FANCL
|
Fanconi anemia complementation group L
|
AR
|
Hereditary Cancer
|
SOP7
|
Definitive
|
07/30/2020
|
FARS2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
11/25/2019
|
FBN1
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Definitive
|
01/23/2017
|
FBN1
|
Marfan syndrome
|
AD
|
General Gene Curation
|
SOP6
|
Definitive
|
03/04/2019
|
FBN2
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
12/22/2016
|
FBXL4
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Definitive
|
11/23/2020
|
FERMT3
|
leukocyte adhesion deficiency 3
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
08/28/2019
|
FGA
|
congenital fibrinogen deficiency
|
SD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
01/22/2020
|
FGB
|
congenital fibrinogen deficiency
|
SD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
01/22/2020
|
FGD1
|
Aarskog-Scott syndrome, X-linked
|
XLR
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
12/06/2017
|
FGD4
|
Charcot-Marie-Tooth disease
|
AR
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
04/14/2020
|
FGF3
|
deafness with labyrinthine aplasia, microtia, and microdontia
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/21/2019
|
FGFR3
|
achondroplasia
|
AD
|
General Gene Curation
|
SOP4
|
Definitive
|
12/01/2016
|
FGG
|
congenital fibrinogen deficiency
|
SD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
01/23/2020
|
FH
|
hereditary leiomyomatosis and renal cell cancer
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/14/2020
|
FKRP
|
muscular dystrophy-dystroglycanopathy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
08/11/2020
|
FKTN
|
muscular dystrophy-dystroglycanopathy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
07/01/2020
|
FLAD1
|
myopathy with abnormal lipid metabolism
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP7
|
Definitive
|
12/16/2020
|
FLCN
|
Birt-Hogg-Dube syndrome
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
04/19/2019
|
FLNA
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
12/22/2016
|
FLNA
|
periventricular nodular heterotopia
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
12/27/2020
|
FLNC
|
myofibrillar myopathy 5
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
12/12/2017
|
FLNC
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Definitive
|
11/06/2020
|
FMO3
|
trimethylaminuria (disease)
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
08/14/2020
|
FMR1
|
fragile X syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
06/03/2019
|
FOLR1
|
neurodegenerative syndrome due to cerebral folate transport deficiency
|
AR
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
04/27/2018
|
FOXE3
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Moderate
|
06/15/2016
|
FOXG1
|
FOXG1 disorder
|
AD
|
Rett and Angelman-like Disorders
|
SOP5
|
Definitive
|
07/02/2018
|
FOXI1
|
enlarged vestibular aqueduct syndrome
|
AR
|
Hearing Loss
|
SOP5
|
Disputed
|
09/10/2018
|
FOXI1
|
syndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
02/27/2018
|
FOXP1
|
intellectual disability-severe speech delay-mild dysmorphism syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
05/09/2019
|
FOXP2
|
specific language disorder
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
05/21/2019
|
FOXRED1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
10/16/2019
|
FTSJ1
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Moderate
|
01/17/2018
|
FXN
|
Friedreich ataxia
|
AR
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
12/22/2017
|
FYB1
|
THC3
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Limited
|
11/25/2020
|
GAA
|
glycogen storage disease II
|
AR
|
General Gene Curation
|
SOP6
|
Definitive
|
01/23/2019
|
GABRA1
|
developmental and epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
05/21/2019
|
GABRB3
|
developmental and epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
02/05/2019
|
GABRG2
|
epilepsy
|
AD
|
Epilepsy
|
SOP7
|
Definitive
|
01/21/2020
|
GALNT12
|
colorectal cancer, susceptibility to, 1
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
06/08/2017
|
GAMT
|
guanidinoacetate methyltransferase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
01/25/2019
|
GANAB
|
polycystic kidney disease 3
|
AD
|
Cystic and Ciliopathy Disorders
|
SOP7
|
Definitive
|
09/09/2020
|
GATA2
|
GATA2 deficiency with susceptibility to MDS/AML
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/18/2019
|
GATA3
|
hypoparathyroidism-deafness-renal disease syndrome
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
06/18/2019
|
GATAD1
|
dilated cardiomyopathy
|
AR
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/04/2020
|
GATM
|
AGAT deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
03/08/2019
|
GBA
|
Gaucher disease
|
AR
|
General Gene Curation
|
SOP7
|
Definitive
|
06/24/2020
|
GCDH
|
glutaryl-CoA dehydrogenase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
11/08/2019
|
GCK
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP7
|
Definitive
|
05/13/2020
|
GDAP1
|
Charcot-Marie-Tooth disease
|
SD
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
07/28/2020
|
GDI1
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Moderate
|
05/24/2018
|
GEN1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
01/11/2017
|
GEN1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
12/13/2017
|
GFI1B
|
platelet-type bleeding disorder 17
|
AD
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
11/27/2019
|
GFM1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
12/19/2019
|
GFM2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
12/19/2019
|
GIPC3
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
08/22/2017
|
GJA1
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Disputed
|
01/16/2018
|
GJB1
|
Charcot-Marie-Tooth disease X-linked dominant 1
|
XL
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
01/14/2020
|
GJB2
|
autosomal recessive nonsyndromic deafness
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
03/02/2017
|
GJB2
|
syndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
06/26/2018
|
GJB3
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP5
|
Disputed
|
08/23/2018
|
GJB3
|
erythrokeratodermia variabilis
|
AD
|
Hearing Loss
|
SOP6
|
Strong
|
03/05/2018
|
GJB6
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP5
|
Refuted
|
09/10/2018
|
GJB6
|
Clouston syndrome
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
04/17/2018
|
GLA
|
Fabry disease
|
XL
|
General Gene Curation
|
SOP6
|
Definitive
|
01/23/2019
|
GLDC
|
glycine encephalopathy
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
02/06/2019
|
GLUL
|
congenital brain dysgenesis due to glutamine synthetase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Moderate
|
06/29/2020
|
GNAO1
|
early infantile epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
12/18/2018
|
GNAO1
|
movement disorder
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
02/19/2019
|
GNB4
|
Charcot-Marie-Tooth disease
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Moderate
|
04/14/2020
|
GNE
|
isolated hereditary giant platelet disorder
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Limited
|
08/26/2020
|
GNMT
|
glycine N-methyltransferase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Limited
|
05/10/2019
|
GNPAT
|
rhizomelic chondrodysplasia punctata
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
02/07/2020
|
GP1BA
|
Bernard-Soulier syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
05/27/2020
|
GP1BA
|
pseudo-von Willebrand disease
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
05/27/2020
|
GP1BB
|
Bernard-Soulier syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
06/06/2019
|
GP6
|
platelet-type bleeding disorder 11
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
10/23/2019
|
GP9
|
Bernard-Soulier syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
11/27/2019
|
GPC3
|
Simpson-Golabi-Behmel syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
12/31/2019
|
GPD1L
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
GPSM2
|
Chudley-McCullough syndrome
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/01/2018
|
GREM1
|
hereditary mixed polyposis syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Strong
|
10/11/2016
|
GRHL2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Definitive
|
05/01/2020
|
GRIA3
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
03/23/2020
|
GRIN1
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
11/20/2018
|
GRIN1
|
complex neurodevelopmental disorder
|
AR
|
Epilepsy
|
SOP6
|
Moderate
|
03/07/2019
|
GRIN2A
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
07/16/2019
|
GRIN2B
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP7
|
Definitive
|
03/19/2019
|
GRIN2D
|
infantile epilepsy syndrome
|
AD
|
Epilepsy
|
SOP5
|
Limited
|
07/06/2018
|
GRXCR1
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
04/24/2018
|
GRXCR2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
01/07/2019
|
GSDME
|
autosomal dominant nonsyndromic deafness
|
AD
|
Hearing Loss
|
SOP5
|
Definitive
|
07/19/2018
|
GSS
|
inherited glutathione synthetase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
04/26/2019
|
GSTZ1
|
maleylacetoacetate isomerase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Moderate
|
03/22/2019
|
GTPBP3
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
02/12/2020
|
HAAO
|
vertebral, cardiac, renal, and limb defects syndrome 1
|
AR
|
Aminoacidopathy
|
SOP7
|
Limited
|
07/10/2020
|
HACD1
|
congenital myopathy
|
AR
|
Congenital Myopathies
|
SOP7
|
Moderate
|
07/30/2020
|
HADH
|
hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
06/26/2018
|
HADHA
|
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
02/12/2018
|
HADHB
|
mitochondrial trifunctional protein deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
05/08/2018
|
HAL
|
histidinemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Limited
|
09/25/2020
|
HARS
|
Usher syndrome type 3
|
AR
|
Hearing Loss
|
SOP5
|
Refuted
|
05/24/2018
|
HARS2
|
Perrault syndrome 2
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
05/15/2018
|
HCN4
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
12/22/2016
|
HCN4
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
HDAC8
|
Cornelia de Lange syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
09/11/2018
|
HEXA
|
Tay-Sachs disease
|
AR
|
General Gene Curation
|
SOP7
|
Definitive
|
05/27/2020
|
HGD
|
alkaptonuria
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
HGF
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
01/16/2018
|
HIBCH
|
neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
11/07/2019
|
HMGCL
|
3-hydroxy-3-methylglutaric aciduria
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
06/26/2018
|
HMGCS2
|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
05/22/2018
|
HNF1A
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP6
|
Definitive
|
10/05/2018
|
HNF1B
|
renal cysts and diabetes syndrome
|
AD
|
Monogenic Diabetes
|
SOP7
|
Definitive
|
12/10/2019
|
HNF4A
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP6
|
Definitive
|
02/27/2019
|
HNRNPK
|
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
|
AD
|
General Gene Curation
|
SOP4
|
Moderate
|
11/15/2016
|
HOMER2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Moderate
|
08/31/2020
|
HOXA1
|
complex neurodevelopmental disorder
|
AR
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
06/19/2019
|
HPD
|
hawkinsinuria
|
AD
|
Aminoacidopathy
|
SOP7
|
Limited
|
06/26/2020
|
HPD
|
tyrosinemia type III
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
HPRT1
|
Lesch-Nyhan syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
03/07/2018
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
07/22/2019
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
02/26/2020
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
05/27/2020
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
11/25/2020
|
HRAS
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/24/2018
|
HRAS
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/24/2018
|
HRAS
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
07/24/2018
|
HRAS
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/24/2018
|
HRAS
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
Disputed
|
07/25/2018
|
HSD17B10
|
HSD10 disease
|
XL
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
10/09/2018
|
HSD17B4
|
Perrault syndrome
|
AR
|
Hearing Loss
|
SOP5
|
Definitive
|
05/30/2018
|
HUWE1
|
non-syndromic X-linked intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
10/20/2017
|
IARS2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
11/25/2019
|
IDS
|
mucopolysaccharidosis type 2
|
XLR
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/21/2018
|
IDUA
|
mucopolysaccharidosis type 1
|
AR
|
General Gene Curation
|
SOP7
|
Definitive
|
05/27/2020
|
IL1RAPL1
|
intellectual disability, X-linked 21
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
01/03/2018
|
ILDR1
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
11/21/2017
|
ILK
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/04/2020
|
INS
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP7
|
Definitive
|
05/13/2020
|
INS
|
permanent neonatal diabetes mellitus
|
AR
|
Monogenic Diabetes
|
SOP7
|
Definitive
|
05/13/2020
|
IQSEC2
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
06/05/2019
|
ITGA2B
|
Glanzmann's thrombasthenia
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
09/04/2019
|
ITGB3
|
Glanzmann's thrombasthenia
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
08/28/2019
|
ITK
|
lymphoproliferative syndrome 1
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/21/2019
|
IVD
|
isovaleric acidemia
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
05/10/2019
|
JAK3
|
T-B+ severe combined immunodeficiency due to JAK3 deficiency
|
AR
|
SCID-CID
|
SOP7
|
Definitive
|
12/18/2020
|
JPH2
|
hypertrophic cardiomyopathy 17
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Moderate
|
07/18/2017
|
JPH2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
Moderate
|
07/18/2017
|
JPH2
|
dilated cardiomyopathy
|
SD
|
Dilated Cardiomyopathy
|
SOP7
|
Moderate
|
10/09/2020
|
JUP
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Definitive
|
07/27/2018
|
KARS
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP5
|
Limited
|
08/24/2018
|
KAT6B
|
RASopathy
|
AD
|
RASopathy
|
SOP6
|
Disputed
|
02/04/2019
|
KATNAL2
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Disputed
|
05/20/2020
|
KBTBD13
|
nemaline myopathy 6
|
AD
|
Congenital Myopathies
|
SOP7
|
Moderate
|
06/22/2020
|
KCNA2
|
undetermined early-onset epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP4
|
Strong
|
10/20/2017
|
KCNB1
|
complex neurodevelopmental disorder
|
AD
|
Epilepsy
|
SOP6
|
Definitive
|
04/16/2019
|
KCND3
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
KCNE1
|
Jervell and Lange-Nielsen syndrome 2
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
06/22/2018
|
KCNE1
|
long QT syndrome 5
|
AD
|
Long QT Syndrome
|
SOP7
|
Limited
|
12/15/2020
|
KCNE2
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Disputed
|
12/15/2020
|
KCNE3
|
Brugada syndrome
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
KCNE5
|
Brugada syndrome
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
KCNH2
|
Brugada syndrome
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
KCNH2
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Definitive
|
09/25/2018
|
KCNJ10
|
enlarged vestibular aqueduct syndrome
|
AD
|
Hearing Loss
|
SOP5
|
Disputed
|
09/18/2018
|
KCNJ11
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP7
|
Definitive
|
08/21/2020
|
KCNJ2
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Limited
|
12/15/2020
|
KCNJ5
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Disputed
|
12/15/2020
|
KCNJ8
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
KCNQ1
|
Jervell and Lange-Nielsen syndrome
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
12/19/2017
|
KCNQ1
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
04/07/2020
|
KCNQ1
|
long QT syndrome
|
AD
|
Long QT Syndrome
|
SOP7
|
Definitive
|
09/25/2018
|
KCNQ2
|
undetermined early-onset epileptic encephalopathy
|
AD
|
Epilepsy
|
SOP5
|
Definitive
|
06/14/2018
|
KCNQ4
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
11/21/2017
|
KCNT1
|
childhood-onset epilepsy syndrome
|
Other
|
Epilepsy
|
SOP4
|
Definitive
|
10/20/2017
|
KCTD7
|
progressive myoclonic epilepsy
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
09/02/2020
|
KDM5C
|
X-linked syndromic intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
09/28/2018
|
KDSR
|
erythrokeratodermia variabilis et progressiva 4
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
KIF1A
|
syndromic intellectual disability
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
09/24/2020
|
KIF1B
|
Charcot-Marie-Tooth disease type 2A1
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
No Reported Evidence
|
10/05/2020
|
KIT
|
gastrointestinal stromal tumor
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
01/14/2020
|
KITLG
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Limited
|
01/16/2018
|
KLF10
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP6
|
Limited
|
08/01/2017
|
KLF11
|
monogenic diabetes
|
AD
|
Monogenic Diabetes
|
SOP7
|
Disputed
|
02/12/2020
|
KLHL40
|
nemaline myopathy 8
|
AR
|
Congenital Myopathies
|
SOP6
|
Definitive
|
11/05/2019
|
KLHL41
|
nemaline myopathy 9
|
AR
|
Congenital Myopathies
|
SOP6
|
Moderate
|
11/05/2019
|
KRAS
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
Disputed
|
07/24/2018
|
KRAS
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
07/24/2018
|
KRAS
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/24/2018
|
KRAS
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
Strong
|
07/24/2018
|
KRAS
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/25/2018
|
KYNU
|
vertebral, cardiac, renal, and limb defects syndrome 2
|
AR
|
Aminoacidopathy
|
SOP7
|
Moderate
|
07/10/2020
|
L1CAM
|
L1 syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
10/02/2019
|
LAMA4
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/12/2020
|
LAMB1
|
cobblestone lissencephaly without muscular or ocular involvement
|
AR
|
General Gene Curation
|
SOP4
|
Moderate
|
11/15/2016
|
LAMC3
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Disputed
|
09/01/2020
|
LAMP2
|
Danon disease
|
XL
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
10/11/2017
|
LARS2
|
Perrault syndrome
|
AR
|
Hearing Loss
|
SOP5
|
Strong
|
06/27/2018
|
LBR
|
regressive spondylometaphyseal dysplasia
|
AR
|
General Gene Curation
|
SOP4
|
Moderate
|
12/01/2016
|
LDB3
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Disputed
|
09/12/2019
|
LDB3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/25/2020
|
LGI1
|
familial temporal lobe epilepsy 1
|
AD
|
Epilepsy
|
SOP7
|
Definitive
|
07/07/2020
|
LHFPL5
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
04/24/2018
|
LITAF
|
Charcot-Marie-Tooth disease
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Moderate
|
04/07/2020
|
LMAN1
|
factor V and factor VIII, combined deficiency of, type 1
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
11/27/2019
|
LMNA
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
09/06/2019
|
LMNA
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Definitive
|
11/06/2020
|
LMOD3
|
nemaline myopathy 10
|
AR
|
Congenital Myopathies
|
SOP6
|
Definitive
|
09/09/2019
|
LOX
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Strong
|
07/25/2016
|
LOXHD1
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/08/2018
|
LPIN1
|
myoglobinuria, acute recurrent, autosomal recessive
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
09/25/2018
|
LRPPRC
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
12/19/2019
|
LRRC10
|
dilated cardiomyopathy
|
AR
|
Dilated Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
09/04/2020
|
LRTOMT
|
autosomal recessive nonsyndromic deafness 63
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
02/15/2017
|
LYST
|
Chediak-Higashi syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
05/27/2020
|
LZTR1
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP7
|
Definitive
|
04/23/2020
|
LZTR1
|
Noonan syndrome
|
AR
|
RASopathy
|
SOP7
|
Strong
|
09/11/2020
|
MAGI2
|
infantile epilepsy syndrome
|
XL
|
Epilepsy
|
SOP5
|
Disputed
|
06/26/2018
|
MAN1B1
|
MAN1B1-CDG
|
AR
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
08/04/2020
|
MAOA
|
Brunner syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
04/14/2020
|
MAP2K1
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Limited
|
07/24/2018
|
MAP2K1
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
Disputed
|
07/24/2018
|
MAP2K1
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
Limited
|
05/29/2018
|
MAP2K1
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
05/29/2018
|
MAP2K1
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
07/25/2018
|
MAP2K2
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
05/29/2018
|
MAP2K2
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
07/24/2018
|
MAP2K2
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
05/29/2018
|
MAP2K2
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Limited
|
06/01/2018
|
MAP2K2
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
05/29/2018
|
MAP3K20
|
myopathy, centronuclear, 6, with fiber-type disproportion
|
AR
|
Congenital Myopathies
|
SOP7
|
Moderate
|
06/08/2020
|
MARS
|
Charcot-Marie-Tooth disease
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Limited
|
10/05/2020
|
MARVELD2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP5
|
Definitive
|
08/29/2018
|
MAT1A
|
brain demyelination due to methionine adenosyltransferase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
09/13/2019
|
MAT2A
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
07/03/2016
|
MBD5
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Moderate
|
11/21/2018
|
MCCC1
|
3-methylcrotonyl-CoA carboxylase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
10/25/2019
|
MCCC2
|
3-methylcrotonyl-CoA carboxylase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
10/25/2019
|
MCEE
|
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
07/09/2020
|
MCM2
|
autosomal dominant nonsyndromic deafness 70
|
AD
|
Hearing Loss
|
SOP4
|
Limited
|
01/04/2018
|
MCM2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Limited
|
04/21/2020
|
MCPH1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
01/11/2017
|
MCPH1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
01/11/2017
|
MECP2
|
Rett syndrome
|
XL
|
Rett and Angelman-like Disorders
|
SOP5
|
Definitive
|
05/02/2018
|
MED12
|
MED12-related intellectual disability syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
04/27/2018
|
MED23
|
syndromic intellectual disability
|
AR
|
Intellectual Disability and Autism
|
SOP7
|
Moderate
|
04/01/2020
|
MEF2C
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
02/06/2019
|
MEGF10
|
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
|
AR
|
Congenital Myopathies
|
SOP7
|
Definitive
|
01/27/2020
|
MEN1
|
multiple endocrine neoplasia type 1
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/14/2020
|
MEN1
|
multiple endocrine neoplasia type 1
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
05/13/2020
|
MET
|
papillary renal cell carcinoma
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
10/11/2018
|
MET
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
12/19/2017
|
MFAP5
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Moderate
|
12/22/2016
|
MIB1
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
09/04/2020
|
MID1
|
X-linked Opitz G/BBB syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
03/21/2018
|
MIR96
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Moderate
|
12/04/2018
|
MITF
|
Waardenburg syndrome type 2
|
AD
|
Hearing Loss
|
SOP5
|
Definitive
|
07/26/2018
|
MLH1
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
06/14/2017
|
MLH1
|
colorectal cancer, hereditary nonpolyposis, type 2
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
07/10/2017
|
MLH1
|
constitutional mismatch repair deficiency syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
10/09/2018
|
MLH3
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Moderate
|
02/14/2017
|
MLYCD
|
malonic aciduria
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Definitive
|
06/26/2018
|
MMACHC
|
methylmalonic aciduria and homocystinuria type cblC
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
MPIG6B
|
thrombocytopenia, anemia, and myelofibrosis
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
10/28/2020
|
MPL
|
congenital amegakaryocytic thrombocytopenia
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
MPL
|
thrombocythemia 2
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Definitive
|
07/22/2020
|
MPZ
|
Charcot-Marie-Tooth disease
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
08/25/2020
|
MRAS
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP7
|
Moderate
|
08/27/2020
|
MRE11
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
10/25/2017
|
MRE11
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
10/25/2017
|
MRPS34
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
08/27/2020
|
MSH2
|
Lynch syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
09/11/2017
|
MSH2
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
10/11/2017
|
MSH2
|
constitutional mismatch repair deficiency syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
10/09/2018
|
MSH3
|
MSH3-related attenuated familial adenomatous polyposis
|
AR
|
Colon Cancer
|
SOP4
|
Moderate
|
12/13/2016
|
MSH3
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
11/13/2017
|
MSH6
|
Lynch syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
09/25/2017
|
MSH6
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
07/26/2017
|
MSH6
|
constitutional mismatch repair deficiency syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
10/09/2018
|
MSRB3
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Moderate
|
11/15/2017
|
MSX2
|
craniosynostosis, Boston type
|
AD
|
Craniofacial Malformations
|
SOP7
|
Definitive
|
09/28/2020
|
MSX2
|
parietal foramina
|
AD
|
Craniofacial Malformations
|
SOP7
|
Definitive
|
08/20/2020
|
MTFMT
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Definitive
|
03/19/2020
|
MTHFR
|
homocystinuria due to methylene tetrahydrofolate reductase deficiency
|
AR
|
Aminoacidopathy
|
SOP6
|
Definitive
|
06/18/2019
|
MTM1
|
X-linked centronuclear myopathy
|
XL
|
Congenital Myopathies
|
SOP7
|
Definitive
|
11/22/2019
|
MTMR2
|
demyelinating hereditary motor and sensory neuropathy
|
AR
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
02/11/2020
|
MUT
|
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
05/09/2019
|
MUTYH
|
MUTYH-related attenuated familial adenomatous polyposis
|
AD
|
Colon Cancer
|
SOP4
|
Moderate
|
10/09/2017
|
MUTYH
|
MUTYH-related attenuated familial adenomatous polyposis
|
AR
|
Colon Cancer
|
SOP4
|
Definitive
|
06/12/2017
|
MUTYH
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
11/29/2017
|
MUTYH
|
hereditary breast carcinoma
|
AR
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
05/24/2017
|
MUTYH
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
05/25/2017
|
MUTYH
|
familial ovarian cancer
|
AR
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
11/29/2017
|
MYBPC3
|
hypertrophic cardiomyopathy 4
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
09/05/2017
|
MYBPC3
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
08/06/2019
|
MYBPC3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/04/2020
|
MYH11
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Definitive
|
07/03/2016
|
MYH14
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Moderate
|
08/31/2020
|
MYH2
|
myopathy, proximal, and ophthalmoplegia
|
SD
|
Congenital Myopathies
|
SOP7
|
Definitive
|
03/09/2020
|
MYH6
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Limited
|
11/01/2017
|
MYH6
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/04/2020
|
MYH7
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
08/06/2019
|
MYH7
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
12/02/2017
|
MYH7
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Definitive
|
11/13/2020
|
MYH9
|
MYH-9 related disease
|
AD
|
Hearing Loss
|
SOP5
|
Definitive
|
07/17/2018
|
MYL1
|
congenital myopathy
|
AR
|
Congenital Myopathies
|
SOP7
|
Limited
|
04/13/2020
|
MYL2
|
hypertrophic cardiomyopathy 10
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
02/07/2017
|
MYL2
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
05/24/2019
|
MYL2
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
10/09/2020
|
MYL3
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
10/04/2016
|
MYL3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Disputed
|
10/09/2020
|
MYL3
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Limited
|
09/13/2019
|
MYLK
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Strong
|
12/18/2016
|
MYLK2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP6
|
Limited
|
04/17/2017
|
MYO15A
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
11/21/2017
|
MYO18B
|
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
|
AR
|
Congenital Myopathies
|
SOP7
|
Limited
|
01/12/2020
|
MYO1A
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Refuted
|
01/16/2018
|
MYO1C
|
autosomal dominant nonsyndromic deafness
|
AD
|
Hearing Loss
|
SOP5
|
Disputed
|
06/28/2018
|
MYO1F
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP5
|
Disputed
|
08/22/2018
|
MYO3A
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Strong
|
11/15/2017
|
MYO6
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
02/20/2018
|
MYO7A
|
Usher syndrome type 1
|
AR
|
Hearing Loss
|
SOP5
|
Definitive
|
06/29/2018
|
MYO7A
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
03/19/2018
|
MYO9A
|
arthrogryposis syndrome
|
AR
|
General Gene Curation
|
SOP4
|
Limited
|
11/24/2016
|
MYOM1
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP5
|
Limited
|
08/01/2018
|
MYOZ2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP5
|
Limited
|
08/01/2018
|
MYPN
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
10/09/2020
|
MYPN
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
Limited
|
05/01/2020
|
MYPN
|
nemaline myopathy 11
|
AR
|
Congenital Myopathies
|
SOP7
|
Definitive
|
06/17/2020
|
MYT1L
|
intellectual disability, autosomal dominant 39
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
08/18/2020
|
NADK2
|
progressive encephalopathy with leukodystrophy due to DECR deficiency
|
AR
|
Fatty Acid Oxidation Disorders
|
SOP6
|
Moderate
|
02/27/2018
|
NAGS
|
hyperammonemia due to N-acetylglutamate synthase deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
07/26/2019
|
NARS2
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
12/19/2017
|
NARS2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
12/19/2019
|
NAT8L
|
N-acetylaspartate deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Limited
|
10/23/2020
|
NBEA
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
12/02/2020
|
NBEAL2
|
gray platelet syndrome
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
06/26/2019
|
NBN
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Limited
|
09/27/2017
|
NBN
|
Nijmegen breakage syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/14/2019
|
NDP
|
Norrie disease
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
03/21/2018
|
NDUFA1
|
Leigh syndrome
|
XL
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
05/20/2019
|
NDUFA10
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
11/25/2019
|
NDUFA12
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
11/25/2019
|
NDUFA2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
05/20/2019
|
NDUFA4
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Limited
|
01/14/2021
|
NDUFA9
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
11/25/2019
|
NDUFAF2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Definitive
|
11/23/2020
|
NDUFAF4
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Limited
|
02/12/2020
|
NDUFAF6
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Definitive
|
11/23/2020
|
NDUFS1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
06/20/2019
|
NDUFS3
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
06/20/2019
|
NDUFS4
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
04/08/2019
|
NDUFS7
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
11/25/2019
|
NDUFS8
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
11/25/2019
|
NDUFV1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
11/26/2019
|
NDUFV2
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
11/25/2019
|
NEB
|
nemaline myopathy 2
|
AR
|
Congenital Myopathies
|
SOP6
|
Definitive
|
10/21/2019
|
NEBL
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
09/25/2020
|
NEFH
|
Charcot-Marie-Tooth disease axonal type 2CC
|
AD
|
Charcot-Marie-Tooth
|
SOP7
|
Definitive
|
10/05/2020
|
NEXMIF
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
05/29/2020
|
NEXN
|
hypertrophic cardiomyopathy 20
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Limited
|
11/01/2016
|
NEXN
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
Limited
|
10/28/2016
|
NEXN
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Moderate
|
08/12/2020
|
NF1
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
02/22/2017
|
NF1
|
neurofibromatosis type 1
|
AD
|
General Gene Curation
|
SOP7
|
Definitive
|
03/05/2019
|
NF2
|
neurofibromatosis type 2
|
AD
|
General Gene Curation
|
SOP6
|
Definitive
|
02/27/2019
|
NFKBIZ
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
07/10/2017
|
NGLY1
|
NGLY1-deficiency
|
AR
|
General Gene Curation
|
SOP4
|
Definitive
|
12/01/2016
|
NHLRC1
|
Lafora disease
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
03/03/2020
|
NHP2
|
dyskeratosis congenita
|
AR
|
General Gene Curation
|
SOP4
|
Limited
|
01/25/2017
|
NHS
|
Nance-Horan syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
10/20/2017
|
NIPBL
|
Cornelia de Lange syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
06/20/2018
|
NKX2-5
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
11/06/2020
|
NLGN3
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Moderate
|
09/19/2018
|
NLGN4X
|
complex neurodevelopmental disorder
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
07/17/2019
|
NOD2
|
Blau syndrome
|
AD
|
Syndromic Disorders
|
SOP7
|
Definitive
|
10/07/2020
|
NOTCH1
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Dissection
|
SOP4
|
Limited
|
04/06/2016
|
NPPA
|
dilated cardiomyopathy
|
AR
|
Dilated Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
09/04/2020
|
NRAS
|
cardiofaciocutaneous syndrome
|
AD
|
RASopathy
|
SOP5
|
Limited
|
07/24/2018
|
NRAS
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP5
|
No Reported Evidence
|
05/30/2018
|
NRAS
|
Costello syndrome
|
AD
|
RASopathy
|
SOP5
|
Limited
|
07/24/2018
|
NRAS
|
Noonan syndrome
|
AD
|
RASopathy
|
SOP5
|
Definitive
|
05/30/2018
|
NRAS
|
Noonan syndrome with multiple lentigines
|
AD
|
RASopathy
|
SOP5
|
Limited
|
05/30/2018
|
NRXN1
|
complex neurodevelopmental disorder
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
07/10/2019
|
NSD1
|
Sotos syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
10/26/2018
|
NSDHL
|
CK syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Limited
|
12/19/2019
|
NSUN2
|
intellectual disability
|
AR
|
Intellectual Disability and Autism
|
SOP6
|
Moderate
|
02/06/2019
|
NSUN2
|
RASopathy
|
AR
|
RASopathy
|
SOP6
|
Disputed
|
02/04/2019
|
NUBPL
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
03/19/2020
|
OAT
|
gyrate atrophy
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
07/10/2019
|
OBSCN
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP7
|
No Reported Evidence
|
11/05/2019
|
OBSCN
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
11/06/2020
|
OCRL
|
oculocerebrorenal syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
07/10/2020
|
OFD1
|
ciliopathy
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
04/27/2018
|
ORAI1
|
tubular aggregate myopathy
|
AD
|
Congenital Myopathies
|
SOP7
|
Definitive
|
07/13/2020
|
OSBPL2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP7
|
Moderate
|
02/06/2020
|
OTC
|
ornithine carbamoyltransferase deficiency
|
XL
|
Aminoacidopathy
|
SOP6
|
Definitive
|
10/29/2019
|
OTOA
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
05/01/2018
|
OTOF
|
autosomal recessive nonsyndromic deafness 9
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
01/30/2017
|
OTOG
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
06/28/2018
|
OTOGL
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
01/05/2018
|
P2RX2
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Moderate
|
02/20/2018
|
P2RY12
|
platelet-type bleeding disorder 8
|
AD
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
08/26/2020
|
PACS1
|
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
06/26/2020
|
PAH
|
phenylketonuria
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
04/24/2020
|
PAK3
|
X-linked syndromic intellectual disability
|
XL
|
Intellectual Disability and Autism
|
SOP5
|
Definitive
|
08/15/2018
|
PALB2
|
hereditary nonpolyposis colon cancer
|
AD
|
Colon Cancer
|
SOP4
|
Limited
|
03/12/2018
|
PALB2
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Definitive
|
12/01/2016
|
PALB2
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Moderate
|
11/08/2017
|
PALB2
|
Fanconi anemia complementation group N
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
08/18/2019
|
PAX3
|
Waardenburg syndrome
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
11/15/2017
|
PCCA
|
propionic acidemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
12/13/2018
|
PCCB
|
propionic acidemia
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
12/13/2018
|
PCDH15
|
Usher syndrome type 1
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
02/15/2017
|
PCDH15
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Limited
|
06/19/2018
|
PCDH19
|
epilepsy
|
XL
|
Epilepsy
|
SOP7
|
Definitive
|
09/04/2018
|
PCSK9
|
hypercholesterolemia, autosomal dominant, 3
|
AD
|
General Gene Curation
|
SOP7
|
Definitive
|
11/14/2018
|
PDGFRA
|
gastrointestinal stromal tumor
|
AD
|
Hereditary Cancer
|
SOP7
|
Definitive
|
01/13/2020
|
PDHA1
|
Leigh syndrome
|
XL
|
Mitochondrial Diseases
|
SOP6
|
Definitive
|
04/08/2019
|
PDLIM3
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP5
|
Limited
|
08/06/2018
|
PDLIM3
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Disputed
|
09/16/2020
|
PDZD7
|
autosomal recessive nonsyndromic deafness
|
AR
|
Hearing Loss
|
SOP4
|
Definitive
|
04/26/2017
|
PET100
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Moderate
|
05/20/2019
|
PET117
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP6
|
Limited
|
05/20/2019
|
PEX1
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
05/17/2019
|
PEX10
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
12/06/2019
|
PEX11B
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
01/17/2020
|
PEX12
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
12/06/2019
|
PEX13
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
10/04/2019
|
PEX14
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
09/20/2019
|
PEX16
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
01/13/2020
|
PEX19
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
01/17/2020
|
PEX2
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
02/07/2020
|
PEX26
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
02/07/2020
|
PEX3
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
11/01/2019
|
PEX5
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
01/17/2020
|
PEX6
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
09/06/2019
|
PEX7
|
peroxisome biogenesis disorder
|
AR
|
Peroxisomal Disorders
|
SOP7
|
Definitive
|
02/14/2020
|
PHF6
|
Borjeson-Forssman-Lehmann syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
02/21/2018
|
PHF8
|
syndromic X-linked intellectual disability Siderius type
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
11/07/2018
|
PHGDH
|
neurometabolic disorder due to serine deficiency
|
AR
|
Aminoacidopathy
|
SOP7
|
Definitive
|
06/29/2020
|
PHYKPL
|
phosphohydroxylysinuria
|
AR
|
Aminoacidopathy
|
SOP7
|
Limited
|
09/25/2020
|
PIGA
|
undetermined early-onset epileptic encephalopathy
|
XL
|
Epilepsy
|
SOP7
|
Moderate
|
08/13/2020
|
PIK3CA
|
familial ovarian cancer
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
02/08/2017
|
PIK3CA
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
No Reported Evidence
|
02/08/2017
|
PIK3R1
|
SHORT syndrome
|
AD
|
UNC Biocuration Core
|
SOP5
|
Definitive
|
07/06/2018
|
PJVK
|
nonsyndromic genetic deafness
|
AR
|
Hearing Loss
|
SOP6
|
Definitive
|
12/19/2017
|
PKD1
|
autosomal dominant polycystic kidney disease
|
AD
|
Harvard/Geisinger Biocuration Core
|
SOP6
|
Definitive
|
05/22/2019
|
PKD2
|
autosomal dominant polycystic kidney disease
|
AD
|
Harvard/Geisinger Biocuration Core
|
SOP6
|
Definitive
|
05/22/2019
|
PKP2
|
Brugada syndrome 1
|
AD
|
Brugada Syndrome
|
SOP4
|
Disputed
|
11/21/2017
|
PKP2
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Definitive
|
03/08/2018
|
PKP2
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Disputed
|
10/09/2020
|
PLA2G4A
|
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
|
AR
|
Hemostasis Thrombosis
|
SOP7
|
Moderate
|
03/25/2020
|
PLCB1
|
epileptic encephalopathy, early infantile, 12
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
09/19/2020
|
PLEKHM2
|
dilated cardiomyopathy
|
AR
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
10/09/2020
|
PLG
|
hypoplasminogenemia
|
AR
|
Hemostasis Thrombosis
|
SOP6
|
Definitive
|
10/23/2019
|
PLN
|
cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
09/19/2017
|
PLN
|
arrhythmogenic right ventricular cardiomyopathy
|
AD
|
Arrhythmogenic Right Ventricular Cardiomyopathy
|
SOP7
|
Moderate
|
12/17/2020
|
PLP1
|
Pelizaeus-Merzbacher disease
|
XL
|
Intellectual Disability and Autism
|
SOP4
|
Definitive
|
03/07/2018
|
PMS1
|
Lynch syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Refuted
|
05/22/2017
|
PMS2
|
hereditary breast carcinoma
|
AD
|
Breast/Ovarian Cancer
|
SOP4
|
Disputed
|
11/08/2017
|
PMS2
|
Lynch syndrome
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
06/26/2017
|
PMS2
|
constitutional mismatch repair deficiency syndrome
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
10/09/2018
|
PNKP
|
microcephaly, seizures, and developmental delay
|
AR
|
Epilepsy
|
SOP7
|
Definitive
|
04/17/2020
|
PNPT1
|
autosomal recessive nonsyndromic deafness
|
AR
|
Hearing Loss
|
SOP4
|
Limited
|
02/23/2017
|
PNPT1
|
Leigh syndrome
|
AR
|
Mitochondrial Diseases
|
SOP7
|
Moderate
|
03/19/2020
|
POGZ
|
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
|
AD
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
03/09/2020
|
POLD1
|
Polymerase proofreading-related adenomatous polyposis
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
04/10/2017
|
POLE
|
Polymerase proofreading-related adenomatous polyposis
|
AD
|
Colon Cancer
|
SOP4
|
Definitive
|
12/11/2017
|
POLH
|
xeroderma pigmentosum variant type
|
AR
|
Hereditary Cancer
|
SOP6
|
Definitive
|
11/02/2018
|
POMGNT1
|
muscular dystrophy-dystroglycanopathy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
09/09/2020
|
POMGNT2
|
muscular dystrophy-dystroglycanopathy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Definitive
|
09/10/2020
|
POPDC3
|
autosomal recessive limb-girdle muscular dystrophy
|
AR
|
Limb Girdle Muscular Dystrophy
|
SOP7
|
Limited
|
01/13/2021
|
PORCN
|
focal dermal hypoplasia
|
XL
|
Intellectual Disability and Autism
|
SOP7
|
Definitive
|
08/05/2020
|
POU3F4
|
nonsyndromic genetic deafness
|
XL
|
Hearing Loss
|
SOP6
|
Definitive
|
01/05/2018
|
POU4F3
|
nonsyndromic genetic deafness
|
AD
|
Hearing Loss
|
SOP6
|
Definitive
|
11/21/2017
|
PPM1K
|
maple syrup urine disease, mild variant
|
AR
|
Aminoacidopathy
|
SOP7
|
Limited
|
09/25/2020
|
PPP1CB
|
Noonan syndrome-like disorder with loose anagen hair
|
AD
|
RASopathy
|
SOP7
|
Definitive
|
04/23/2020
|
PQBP1
|
Renpenning syndrome
|
XL
|
Intellectual Disability and Autism
|
SOP6
|
Definitive
|
11/09/2018
|
PRDM16
|
dilated cardiomyopathy
|
AD
|
Dilated Cardiomyopathy
|
SOP7
|
Limited
|
08/12/2020
|
PRICKLE1
|
progressive myoclonic epilepsy
|
AR
|
Epilepsy
|
SOP7
|
Limited
|
08/18/2020
|
PRICKLE1
|
progressive myoclonic epilepsy
|
AD
|
Epilepsy
|
SOP7
|
Disputed
|
09/01/2020
|
PRKAG2
|
hypertrophic cardiomyopathy
|
AD
|
Hypertrophic Cardiomyopathy
|
SOP4
|
Definitive
|
01/30/2017
|
PRKAR1A
|
Carney complex, type 1
|
AD
|
Hereditary Cancer
|
SOP6
|
Definitive
|
12/21/2018
|
PRKCSH
|
isolated polycystic liver disease
|
AD
|
Cystic and Ciliopathy Disorders
|
SOP7
|
Definitive
|
08/03/2020
|
PRKG1
|
familial thoracic aortic aneurysm and aortic dissection
|
AD
|
Familial Thoracic Aortic Aneurysm and Disse |