Gene Validity Curations

Gene Validity Curations

Curation Count: 828 | Download Summary
Gene Disease curated SOP Classification Released
A2ML1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/07/2018
A2ML1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
A2ML1 Costello syndrome SOP5 No Reported Evidence 06/07/2018
A2ML1 Noonan syndrome SOP5 Disputed 06/07/2018
A2ML1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
AARS undetermined early-onset epileptic encephalopathy SOP6 Limited 11/20/2018
ABCC9 hypertrichotic osteochondrodysplasia Cantu type SOP4 Definitive 09/27/2017
ABCD1 X-linked cerebral adrenoleukodystrophy SOP4 Definitive 02/07/2018
ABHD12 PHARC syndrome SOP5 Definitive 06/28/2018
ACAD8 isobutyryl-CoA dehydrogenase deficiency SOP6 Definitive 04/26/2019
ACAD9 acyl-CoA dehydrogenase 9 deficiency SOP6 Definitive 03/27/2018
ACADL long chain acyl-CoA dehydrogenase deficiency SOP6 Disputed 09/25/2018
ACADM medium chain acyl-CoA dehydrogenase deficiency SOP6 Definitive 01/23/2018
ACADS short chain acyl-CoA dehydrogenase deficiency SOP6 Definitive 01/23/2018
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency SOP6 Definitive 03/22/2019
ACADVL very long chain acyl-CoA dehydrogenase deficiency SOP6 Definitive 02/20/2018
ACAT1 beta-ketothiolase deficiency SOP6 Definitive 05/22/2018
ACSL4 non-syndromic X-linked intellectual disability SOP4 Moderate 10/20/2017
ACTA1 hypertrophic cardiomyopathy SOP4 No Reported Evidence
ACTA2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 09/27/2016
ACTC1 hypertrophic cardiomyopathy SOP4 Definitive 10/23/2017
ACTG1 nonsyndromic genetic deafness SOP6 Definitive 01/07/2019
ACTG1 Baraitser-winter syndrome 2 SOP6 Definitive 01/07/2019
ACTN2 intrinsic cardiomyopathy SOP5 Moderate 08/06/2018
ACVRL1 telangiectasia, hereditary hemorrhagic, type 2 SOP6 Definitive 08/28/2019
ADCY1 autosomal recessive nonsyndromic deafness SOP4 Limited 05/10/2017
ADGRV1 Usher syndrome type 2C SOP4 Definitive 02/15/2017
ADGRV1 nonsyndromic genetic deafness SOP6 Disputed 03/19/2019
AFF2 FRAXE intellectual disability SOP4 Definitive 10/20/2017
AGPS rhizomelic chondrodysplasia punctata SOP6 Definitive 10/04/2019
AGTR2 non-syndromic X-linked intellectual disability SOP4 Disputed 11/16/2016
AIFM1 X-linked hereditary sensory and autonomic neuropathy with deafness SOP6 Definitive 07/09/2018
AKAP9 long QT syndrome 11 SOP4 Limited 12/15/2016
ALDH4A1 hyperprolinemia type 2 SOP6 Moderate 09/13/2019
ALDH6A1 developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency SOP6 Limited 09/27/2019
ALDH7A1 pyridoxine-dependent epilepsy SOP6 Definitive 07/26/2019
ALG13 undetermined early-onset epileptic encephalopathy SOP5 Definitive 04/26/2018
ALMS1 Alstrom syndrome SOP4 Definitive 02/10/2017
ALPK3 hypertrophic cardiomyopathy SOP4 Strong 02/07/2017
AMT glycine encephalopathy SOP6 Definitive 05/24/2019
ANK2 Brugada syndrome SOP4 Disputed
ANKRD1 hypertrophic cardiomyopathy SOP4 Limited 09/18/2017
ANKRD26 thrombocytopenia 2 SOP6 Definitive 09/25/2019
AP1S2 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
APC APC-related attenuated familial adenomatous polyposis SOP4 Definitive 09/11/2017
APOB hypercholesterolemia, autosomal dominant, type b SOP6 Definitive 11/14/2018
AQP5 palmoplantar keratoderma, Bothnian type SOP5 Moderate 07/06/2018
ARG1 hyperargininemia SOP6 Definitive 09/18/2018
ARHGEF6 non-syndromic X-linked intellectual disability SOP5 Limited 06/28/2018
ARHGEF6 non-syndromic X-linked intellectual disability SOP6 Limited 05/17/2018
ARL2BP retinitis pigmentosa with or without situs inversus SOP5 Limited 07/06/2018
ARX early infantile epileptic encephalopathy SOP6 Definitive 06/21/2019
ASL argininosuccinic aciduria SOP6 Definitive 09/15/2018
ASNS congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome SOP6 Definitive 09/20/2019
ASS1 citrullinemia type I SOP6 Definitive 12/27/2018
ATF6 achromatopsia 7 SOP4 Strong 11/16/2016
ATM hereditary nonpolyposis colon cancer SOP4 Moderate 08/28/2017
ATM hereditary breast carcinoma SOP4 Definitive 07/12/2017
ATM familial ovarian cancer SOP4 Limited 07/12/2017
ATP6V1B1 renal tubular acidosis, distal, with progressive nerve deafness SOP6 Definitive 12/19/2017
ATP7A Menkes disease SOP4 Definitive 02/07/2018
ATP7B Wilson disease SOP6 Definitive 03/27/2019
ATRX X-linked intellectual disability-hypotonic face syndrome SOP4 Definitive 02/07/2018
AUH 3-methylglutaconic aciduria type 1 SOP6 Definitive 03/08/2019
AXIN2 oligodontia-cancer predisposition syndrome SOP4 Moderate 06/08/2017
BAG3 myofibrillar myopathy (disease) SOP4 Definitive 12/18/2016
BAP1 hereditary pheochromocytoma-paraganglioma SOP4 Limited 07/22/2017
BAP1 BAP1-related tumor predisposition syndrome SOP6 Definitive 03/21/2019
BARD1 familial ovarian cancer SOP4 Limited 08/09/2017
BARD1 hereditary breast carcinoma SOP4 Definitive 08/09/2017
BARD1 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
BCKDHA maple syrup urine disease type 1A SOP6 Definitive 09/14/2018
BCKDHB maple syrup urine disease type 1B SOP6 Definitive 02/08/2019
BCKDK branched-chain keto acid dehydrogenase kinase deficiency SOP6 Definitive 01/08/2019
BCS1L Bjornstad syndrome SOP6 Definitive 07/09/2018
BCS1L Leigh syndrome SOP6 Limited 09/19/2019
BDP1 nonsyndromic genetic deafness SOP6 Limited 09/11/2017
BGN familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
BLM Bloom syndrome SOP6 Definitive 04/19/2019
BMPR1A generalized juvenile polyposis/juvenile polyposis coli SOP4 Definitive 06/12/2017
BRAF Noonan syndrome SOP5 Moderate 07/24/2018
BRAF cardiofaciocutaneous syndrome SOP5 Definitive 07/24/2018
BRAF Costello syndrome SOP5 Disputed 07/24/2018
BRAF Noonan syndrome with multiple lentigines SOP5 Limited 07/24/2018
BRAF Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
BRCA1 breast-ovarian cancer, familial, susceptibility to, 1 SOP4 Definitive 09/13/2017
BRCA2 breast-ovarian cancer, familial, susceptibility to, 2 SOP4 Definitive 09/13/2017
BRCA2 Fanconi anemia complementation group D1 SOP6 Definitive 04/19/2019
BRIP1 hereditary breast carcinoma SOP4 Refuted 05/10/2017
BRIP1 familial ovarian cancer SOP4 Definitive 10/12/2016
BRIP1 Fanconi anemia complementation group j SOP6 Definitive 08/18/2019
BRWD3 X-linked syndromic intellectual disability SOP5 Definitive 09/20/2018
BSND Bartter disease type 4a SOP5 Definitive 07/12/2018
BTD biotinidase deficiency SOP6 Definitive 09/25/2019
C1QB immunodeficiency due to a classical component pathway complement deficiency SOP4 Definitive 01/09/2017
CA5A hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency SOP6 Definitive 09/10/2018
CABP2 nonsyndromic genetic deafness SOP6 Strong 09/08/2017
CACNA1C Brugada syndrome SOP4 Disputed
CACNA1D sinoatrial node dysfunction and deafness SOP6 Moderate 05/01/2018
CACNA1H generalised epilepsy SOP5 Disputed 07/31/2018
CACNA2D1 Brugada syndrome 1 SOP4 Disputed
CACNB2 hypertrophic cardiomyopathy SOP4 No Reported Evidence
CACNB2 Brugada syndrome 1 SOP4 Disputed
CACNB4 epilepsy SOP5 Disputed 06/22/2018
CALR3 hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
CASK X-linked syndromic intellectual disability SOP6 Definitive 07/09/2019
CASQ2 hypertrophic cardiomyopathy SOP4 No Reported Evidence 01/17/2017
CBS classic homocystinuria SOP6 Definitive 04/12/2019
CCDC50 nonsyndromic genetic deafness SOP6 Limited 12/19/2017
CD164 autosomal dominant nonsyndromic deafness 66 SOP4 Limited 03/20/2018
CD164 nonsyndromic genetic deafness SOP6 Limited 03/20/2018
CD3E severe combined immunodeficiency (disease) SOP4 Definitive 01/09/2017
CDC14A nonsyndromic genetic deafness SOP6 Limited 02/26/2018
CDC73 hyperparathyroidism-jaw tumor syndrome SOP6 Definitive 04/19/2019
CDH1 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
CDH1 hereditary breast carcinoma SOP4 Definitive 01/25/2017
CDH1 familial ovarian cancer SOP4 No Reported Evidence 08/03/2017
CDH1 hereditary diffuse gastric adenocarcinoma SOP6 Definitive 04/19/2019
CDH23 Usher syndrome type 1 SOP4 Definitive 01/30/2017
CDH23 nonsyndromic genetic deafness SOP6 Definitive 05/22/2018
CDKL5 CDKL5 disorder SOP5 Definitive 07/02/2018
CDKN1B hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
CDKN1B multiple endocrine neoplasia type 4 SOP6 Definitive 12/21/2018
CDKN2A melanoma-pancreatic cancer syndrome SOP6 Definitive 08/14/2019
CEACAM16 nonsyndromic genetic deafness SOP6 Moderate 03/20/2018
CEBPA acute myeloid leukemia SOP6 Definitive 08/18/2019
CEMIP nonsyndromic genetic deafness SOP6 Disputed 07/17/2018
CEP78 cone-rod dystrophy and hearing loss; CRDHL SOP4 Strong 04/12/2017
CHD1L congenital anomaly of kidney and urinary tract SOP4 Limited 11/18/2016
CHD2 complex neurodevelopmental disorder SOP5 Definitive 07/18/2018
CHD7 CHARGE syndrome SOP5 Definitive 08/22/2018
CHD8 autism spectrum disorder SOP5 Definitive 08/27/2018
CHEK1 familial ovarian cancer SOP4 No Reported Evidence 10/12/2016
CHEK1 hereditary breast carcinoma SOP4 No Reported Evidence 10/12/2016
CHEK2 familial ovarian cancer SOP4 Disputed 12/14/2016
CHEK2 hereditary nonpolyposis colon cancer SOP4 Limited 03/13/2017
CHEK2 hereditary breast carcinoma SOP4 Definitive 12/14/2016
CIB2 nonsyndromic genetic deafness SOP6 Definitive 02/20/2018
CIB2 Usher syndrome type 1 SOP6 Refuted 02/19/2019
CISD2 Wolfram syndrome SOP6 Strong 03/27/2018
CLCN4 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
CLDN14 nonsyndromic genetic deafness SOP6 Definitive 05/01/2018
CLIC5 autosomal recessive nonsyndromic deafness SOP4 Moderate 11/21/2017
CLPP Perrault syndrome 3 SOP6 Definitive 03/27/2018
CLRN1 Usher syndrome type 3 SOP4 Definitive 03/02/2017
COCH nonsyndromic genetic deafness SOP6 Definitive 01/05/2018
COL11A2 nonsyndromic genetic deafness SOP6 Moderate 12/20/2018
COL11A2 nonsyndromic genetic deafness SOP6 Moderate 12/20/2018
COL11A2 otospondylomegaepiphyseal dysplasia SOP6 Definitive 12/20/2018
COL11A2 otospondylomegaepiphyseal dysplasia SOP6 Definitive 12/20/2018
COL2A1 spondyloepiphyseal dysplasia, Stanescu type SOP4 Moderate 12/01/2016
COL3A1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 03/14/2016
COL3A1 Ehlers-Danlos syndrome, vascular type SOP6 Definitive 02/27/2019
COL4A5 Alport syndrome SOP6 Definitive 03/19/2019
COL4A6 deafness, X-linked 6 SOP6 Limited 01/16/2018
COL9A1 Stickler syndrome SOP4 Limited 03/26/2018
COL9A2 Stickler syndrome SOP6 Limited 02/19/2019
COX10 Leigh syndrome SOP6 Moderate 05/20/2019
COX15 Leigh syndrome SOP6 Limited 05/20/2019
CPS1 carbamoyl phosphate synthetase I deficiency disease SOP6 Definitive 10/12/2018
CPT1A carnitine palmitoyl transferase 1A deficiency SOP6 Definitive 01/23/2018
CPT2 carnitine palmitoyltransferase II deficiency SOP6 Definitive 03/27/2018
CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations SOP4 Definitive 02/21/2018
CRYM autosomal dominant nonsyndromic deafness 40 SOP4 Limited
CSRP3 hypertrophic cardiomyopathy 12 SOP4 Moderate 12/19/2017
CTCF intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome SOP4 Moderate
CTH cystathioninuria (disease) SOP6 Definitive 06/14/2019
CTNNA1 hereditary nonpolyposis colon cancer SOP4 No Reported Evidence 04/24/2017
CUL4B X-linked intellectual disability, Cabezas type SOP4 Definitive 02/21/2018
CYLD Brooke-Spiegler syndrome SOP6 Definitive 04/19/2019
DBT maple syrup urine disease SOP6 Definitive 10/30/2018
DCDC2 nonsyndromic genetic deafness SOP6 Limited 11/21/2017
DDB2 xeroderma pigmentosum group E SOP6 Definitive 04/19/2019
DEPDC5 familial focal epilepsy with variable foci SOP5 Definitive 08/24/2018
DES myofibrillar myopathy 1 SOP4 Definitive 08/25/2017
DHCR7 Smith-Lemli-Opitz syndrome SOP5 Definitive 09/11/2018
DIABLO nonsyndromic genetic deafness SOP6 Limited 12/19/2017
DIAPH1 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome SOP6 Definitive 01/05/2018
DIAPH3 auditory neuropathy SOP6 Moderate 03/29/2017
DICER1 pleuropulmonary blastoma SOP4 Definitive 01/08/2017
DLD pyruvate dehydrogenase E3 deficiency SOP6 Definitive 03/08/2019
DLG3 non-syndromic X-linked intellectual disability SOP5 Definitive 08/24/2018
DMGDH dimethylglycine dehydrogenase deficiency SOP6 Limited 06/28/2019
DMXL2 autosomal recessive nonsyndromic deafness SOP4 Moderate 02/06/2017
DNM1 early infantile epileptic encephalopathy SOP4 Definitive 12/13/2016
DNMT1 autosomal dominant cerebellar ataxia, deafness and narcolepsy SOP4 Definitive 02/10/2017
DSP hypertrophic cardiomyopathy SOP4 No Reported Evidence 05/23/2017
DSPP dentinogenesis imperfecta (disease) SOP6 Definitive 04/17/2018
ECHS1 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency SOP6 Definitive 10/09/2018
EDN3 Waardenburg syndrome type 4B SOP5 Limited 05/30/2018
EDN3 Waardenburg syndrome type 4B SOP6 Moderate 05/08/2018
EDNRB Waardenburg syndrome type 4A SOP6 Moderate 05/08/2018
EDNRB Waardenburg syndrome type 4A SOP6 Limited 05/08/2018
EEF1A2 complex neurodevelopmental disorder SOP6 Definitive 03/19/2019
EFEMP2 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 12/22/2016
EFHC1 juvenile myoclonic epilepsy SOP5 Disputed 07/27/2018
EGLN1 hereditary pheochromocytoma-paraganglioma SOP4 Moderate 06/22/2017
EGLN2 hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
EHMT1 Kleefstra syndrome SOP5 Definitive 06/07/2018
ELAC2 combined oxidative phosphorylation defect type 17 SOP4 Moderate
ELMOD3 autosomal recessive nonsyndromic deafness 88 SOP4 Limited 05/04/2017
ELMOD3 nonsyndromic genetic deafness SOP6 Limited 05/04/2017
ENG generalized juvenile polyposis/juvenile polyposis coli SOP4 Limited 12/11/2017
ENG hereditary hemorrhagic telangiectasia SOP6 Definitive 08/28/2019
EPAS1 hereditary pheochromocytoma-paraganglioma SOP4 Disputed 06/22/2017
EPCAM colorectal cancer, hereditary nonpolyposis, type 8 SOP4 Definitive 09/11/2017
EPCAM hereditary breast carcinoma SOP4 No Reported Evidence 04/12/2017
EPHX1 hereditary nonpolyposis colon cancer SOP4 Limited 11/08/2016
EPS8 autosomal recessive nonsyndromic deafness SOP4 Moderate 04/26/2017
EPS8L2 nonsyndromic genetic deafness SOP6 Moderate 11/21/2017
ERCC2 xeroderma pigmentosum group D SOP6 Definitive 04/19/2019
ERCC3 xeroderma pigmentosum group B SOP6 Definitive 04/19/2019
ERCC4 xeroderma pigmentosum group F SOP6 Definitive 08/14/2019
ERCC5 xeroderma pigmentosum group G SOP6 Definitive 04/19/2019
ESPN nonsyndromic genetic deafness SOP5 Limited 09/20/2018
ESPN nonsyndromic genetic deafness SOP6 Definitive 02/27/2018
ESRRB nonsyndromic genetic deafness SOP6 Definitive 04/24/2018
ETFA multiple acyl-CoA dehydrogenase deficiency SOP6 Definitive 05/22/2018
ETFB multiple acyl-CoA dehydrogenase deficiency SOP6 Moderate 06/12/2018
ETFDH multiple acyl-CoA dehydrogenase deficiency SOP6 Definitive 05/22/2018
ETHE1 Leigh syndrome SOP6 Definitive 04/08/2019
EVC Ellis-van Creveld syndrome SOP4 Definitive 02/06/2018
EVC2 Ellis-van Creveld syndrome SOP4 Definitive 02/06/2018
EXO1 hereditary nonpolyposis colon cancer SOP4 Disputed 06/08/2017
EXT1 exostoses, multiple, type 1 SOP5 Definitive 06/04/2018
EXT2 exostoses, multiple, type 2 SOP6 Definitive 12/21/2018
EYA1 branchio-oto-renal syndrome SOP5 Definitive 08/30/2018
EYA4 nonsyndromic genetic deafness SOP6 Definitive 01/05/2018
F5 thrombophilia due to activated protein C resistance SOP6 Definitive 09/30/2019
F7 factor VII deficiency SOP6 Definitive 07/24/2019
F8 hemophilia A SOP6 Definitive 07/24/2019
F9 hemophilia B SOP6 Definitive 05/22/2019
FAH tyrosinemia type I SOP6 Definitive 03/08/2019
FAN1 hereditary nonpolyposis colon cancer SOP4 Limited 10/23/2017
FANCA Fanconi anemia complementation group A SOP6 Definitive 04/19/2019
FANCC Fanconi anemia complementation group C SOP6 Definitive 04/19/2019
FANCG Fanconi anemia complementation group G SOP6 Definitive 04/19/2019
FBN1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 01/23/2017
FBN1 Marfan syndrome SOP6 Definitive 03/04/2019
FBN2 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
FERMT3 leukocyte adhesion deficiency 3 SOP6 Definitive 08/28/2019
FGD1 Aarskog-Scott syndrome, X-linked SOP4 Definitive 12/06/2017
FGF3 deafness with labyrinthine aplasia, microtia, and microdontia SOP6 Definitive 05/21/2019
FGFR3 achondroplasia SOP4 Definitive 12/01/2016
FH hereditary pheochromocytoma-paraganglioma SOP4 Moderate 06/22/2017
FLAD1 myopathy with abnormal lipid metabolism SOP6 Moderate 06/12/2018
FLCN Birt-Hogg-Dube syndrome SOP6 Definitive 04/19/2019
FLNA familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
FLNC myofibrillar myopathy 5 SOP4 Definitive 12/12/2017
FMR1 fragile X syndrome SOP6 Definitive 06/03/2019
FOLR1 neurodegenerative syndrome due to cerebral folate transport deficiency SOP5 Definitive 04/27/2018
FOXE3 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 06/15/2016
FOXG1 FOXG1 disorder SOP5 Definitive 07/02/2018
FOXI1 enlarged vestibular aqueduct syndrome SOP5 Disputed 09/10/2018
FOXI1 syndromic genetic deafness SOP6 Limited 02/27/2018
FOXP1 intellectual disability-severe speech delay-mild dysmorphism syndrome SOP6 Definitive 05/09/2019
FOXP2 specific language disorder SOP6 Definitive 05/21/2019
FOXRED1 Leigh syndrome SOP6 Moderate 10/16/2019
FTSJ1 non-syndromic X-linked intellectual disability SOP4 Moderate 01/17/2018
FXN Friedreich ataxia SOP4 Definitive 12/22/2017
GAA glycogen storage disease II SOP6 Definitive 01/23/2019
GABRA1 developmental and epileptic encephalopathy SOP6 Definitive 05/21/2019
GABRB3 developmental and epileptic encephalopathy SOP6 Definitive 02/05/2019
GALNT12 colorectal cancer, susceptibility to, 1 SOP4 Limited 06/08/2017
GAMT guanidinoacetate methyltransferase deficiency SOP6 Definitive 01/25/2019
GATA2 GATA2 deficiency with susceptibility to MDS/AML SOP6 Definitive 08/18/2019
GATA3 hypoparathyroidism-deafness-renal disease syndrome SOP6 Definitive 06/18/2019
GATM AGAT deficiency SOP6 Definitive 03/08/2019
GCDH glutaryl-CoA dehydrogenase deficiency SOP6 Definitive 11/08/2019
GDI1 non-syndromic X-linked intellectual disability SOP5 Moderate 05/24/2018
GDNF hereditary pheochromocytoma-paraganglioma SOP4 Limited 07/22/2017
GEN1 familial ovarian cancer SOP4 No Reported Evidence 01/11/2017
GEN1 hereditary breast carcinoma SOP4 Disputed 12/13/2017
GIPC3 nonsyndromic genetic deafness SOP6 Definitive 08/22/2017
GJA1 nonsyndromic genetic deafness SOP6 Disputed 01/16/2018
GJB2 autosomal recessive nonsyndromic deafness SOP4 Definitive 03/02/2017
GJB2 syndromic genetic deafness SOP6 Definitive 06/26/2018
GJB3 nonsyndromic genetic deafness SOP5 Disputed 08/23/2018
GJB3 erythrokeratodermia variabilis SOP6 Strong 03/05/2018
GJB6 nonsyndromic genetic deafness SOP5 Refuted 09/10/2018
GJB6 Clouston syndrome SOP6 Definitive 04/17/2018
GLA Fabry disease SOP6 Definitive 01/23/2019
GLDC glycine encephalopathy SOP6 Definitive 12/12/2018
GLUL congenital brain dysgenesis due to glutamine synthetase deficiency SOP6 Limited 09/13/2019
GNAO1 early infantile epileptic encephalopathy SOP6 Definitive 12/18/2018
GNAO1 movement disorder SOP6 Definitive 02/19/2019
GNMT glycine N-methyltransferase deficiency SOP6 Limited 05/10/2019
GP1BB Bernard-Soulier syndrome SOP6 Definitive 06/06/2019
GP6 platelet-type bleeding disorder 11 SOP6 Definitive 10/23/2019
GPD1L Brugada syndrome 1 SOP4 Disputed
GPSM2 Chudley-McCullough syndrome SOP6 Definitive 05/01/2018
GREM1 hereditary mixed polyposis syndrome SOP4 Strong 10/11/2016
GRHL2 nonsyndromic genetic deafness SOP6 Strong 01/16/2018
GRIA3 X-linked syndromic intellectual disability SOP6 Limited 09/09/2019
GRIA3 X-linked syndromic intellectual disability SOP6 Limited 10/20/2017
GRIN1 complex neurodevelopmental disorder SOP6 Definitive 11/20/2018
GRIN1 complex neurodevelopmental disorder SOP6 Moderate 03/07/2019
GRIN2A complex neurodevelopmental disorder SOP6 Definitive 07/16/2019
GRIN2D infantile epilepsy syndrome SOP5 Limited 07/06/2018
GRXCR1 nonsyndromic genetic deafness SOP6 Definitive 04/24/2018
GRXCR2 nonsyndromic genetic deafness SOP6 Moderate 01/07/2019
GSDME autosomal dominant nonsyndromic deafness SOP5 Definitive 07/19/2018
GSS inherited glutathione synthetase deficiency SOP6 Definitive 04/26/2019
GSTZ1 maleylacetoacetate isomerase deficiency SOP6 Moderate 03/22/2019
HADH hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency SOP6 Definitive 06/26/2018
HADHA long chain 3-hydroxyacyl-CoA dehydrogenase deficiency SOP6 Definitive 02/12/2018
HADHB mitochondrial trifunctional protein deficiency SOP6 Definitive 05/08/2018
HARS Usher syndrome type 3 SOP5 Refuted 05/24/2018
HARS2 Perrault syndrome 2 SOP6 Limited 05/15/2018
HCN4 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
HCN4 Brugada syndrome 1 SOP4 Disputed
HDAC8 Cornelia de Lange syndrome SOP5 Definitive 09/11/2018
HGD alkaptonuria SOP6 Definitive 02/08/2019
HGF nonsyndromic genetic deafness SOP6 Moderate 01/16/2018
HIBCH neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency SOP6 Definitive 11/07/2019
HMGCL 3-hydroxy-3-methylglutaric aciduria SOP6 Definitive 06/26/2018
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency SOP6 Definitive 05/22/2018
HNF1A monogenic diabetes SOP6 Definitive 10/05/2018
HNF4A monogenic diabetes SOP6 Definitive 02/27/2019
HNRNPK neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome SOP4 Moderate 11/15/2016
HOMER2 nonsyndromic genetic deafness SOP6 Moderate 10/16/2018
HOXA1 complex neurodevelopmental disorder SOP6 Definitive 06/19/2019
HPD tyrosinemia type III SOP6 Moderate 02/22/2019
HPRT1 Lesch-Nyhan syndrome SOP4 Definitive 03/07/2018
HPS1 Hermansky-Pudlak syndrome 1 SOP6 Definitive 07/22/2019
HRAS Noonan syndrome SOP5 No Reported Evidence 07/24/2018
HRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 07/24/2018
HRAS Costello syndrome SOP5 Definitive 07/24/2018
HRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 07/24/2018
HRAS Noonan syndrome-like disorder with loose anagen hair SOP5 Disputed 07/25/2018
HSD17B10 HSD10 disease SOP6 Definitive 10/09/2018
HSD17B4 Perrault syndrome SOP5 Definitive 05/30/2018
HUWE1 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
IDS mucopolysaccharidosis type 2 SOP4 Definitive 02/21/2018
IL1RAPL1 intellectual disability, X-linked 21 SOP4 Definitive 01/03/2018
ILDR1 nonsyndromic genetic deafness SOP6 Definitive 11/21/2017
IQSEC2 complex neurodevelopmental disorder SOP6 Definitive 06/05/2019
ITGA2B Glanzmann's thrombasthenia SOP6 Definitive 09/04/2019
ITGB3 Glanzmann's thrombasthenia SOP6 Definitive 08/28/2019
IVD isovaleric acidemia SOP6 Definitive 05/10/2019
JPH2 hypertrophic cardiomyopathy 17 SOP4 Moderate 07/18/2017
KARS nonsyndromic genetic deafness SOP5 Limited 08/24/2018
KAT6B RASopathy SOP6 Disputed 02/04/2019
KCNA2 undetermined early-onset epileptic encephalopathy SOP4 Strong 10/20/2017
KCNB1 complex neurodevelopmental disorder SOP6 Definitive 04/16/2019
KCND3 Brugada syndrome 1 SOP4 Disputed
KCNE1 Jervell and Lange-Nielsen syndrome 2 SOP6 Moderate 06/22/2018
KCNE3 Brugada syndrome SOP4 Disputed
KCNE5 Brugada syndrome SOP4 Disputed
KCNH2 Brugada syndrome SOP4 Disputed 11/21/2017
KCNJ10 enlarged vestibular aqueduct syndrome SOP5 Disputed 09/18/2018
KCNJ8 Brugada syndrome 1 SOP4 Disputed
KCNQ1 hypertrophic cardiomyopathy SOP4 No Reported Evidence 04/04/2017
KCNQ1 hypertrophic cardiomyopathy SOP4 No Reported Evidence 01/31/2017
KCNQ1 Jervell and Lange-Nielsen syndrome SOP6 Definitive 12/19/2017
KCNQ2 undetermined early-onset epileptic encephalopathy SOP5 Definitive 06/14/2018
KCNQ4 nonsyndromic genetic deafness SOP6 Definitive 11/21/2017
KCNT1 malignant migrating partial seizures of infancy SOP4 Definitive
KDM5C X-linked syndromic intellectual disability SOP6 Definitive 09/28/2018
KIF1B hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
KITLG nonsyndromic genetic deafness SOP6 Limited 01/16/2018
KLF10 hypertrophic cardiomyopathy SOP6 Limited 08/01/2017
KLHL24 epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH SOP4 Strong
KLHL40 nemaline myopathy 8 SOP6 Definitive 11/05/2019
KLHL41 nemaline myopathy 9 SOP6 Moderate 11/05/2019
KMT2D hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
KRAS Costello syndrome SOP5 Disputed 07/24/2018
KRAS Noonan syndrome SOP5 Definitive 07/24/2018
KRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 07/24/2018
KRAS cardiofaciocutaneous syndrome SOP5 Strong 07/24/2018
KRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
L1CAM L1 syndrome SOP6 Definitive 10/02/2019
LAMB1 cobblestone lissencephaly without muscular or ocular involvement SOP4 Moderate 11/15/2016
LAMP2 Danon disease SOP4 Definitive 10/11/2017
LARS2 Perrault syndrome SOP5 Strong 06/27/2018
LBR regressive spondylometaphyseal dysplasia SOP4 Moderate 12/01/2016
LHFPL5 nonsyndromic genetic deafness SOP6 Definitive 04/24/2018
LOX familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 07/25/2016
LOXHD1 nonsyndromic genetic deafness SOP6 Definitive 05/08/2018
LPIN1 myoglobinuria, acute recurrent, autosomal recessive SOP6 Definitive 09/25/2018
LRPAP1 myopia 23, autosomal recessive SOP4 Moderate
LRTOMT autosomal recessive nonsyndromic deafness 63 SOP4 Definitive 02/15/2017
LZTR1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/01/2018
LZTR1 Costello syndrome SOP5 No Reported Evidence 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
LZTR1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome SOP5 Limited 07/24/2018
LZTR1 Costello syndrome SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/05/2018
LZTR1 Noonan syndrome SOP5 Strong 07/25/2018
MAGI2 infantile epilepsy syndrome SOP5 Disputed 06/26/2018
MAP2K1 Noonan syndrome SOP5 Limited 07/24/2018
MAP2K1 Costello syndrome SOP5 Disputed 07/24/2018
MAP2K1 Noonan syndrome with multiple lentigines SOP5 Limited 05/29/2018
MAP2K1 cardiofaciocutaneous syndrome SOP5 Definitive 05/29/2018
MAP2K1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
MAP2K2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/29/2018
MAP2K2 cardiofaciocutaneous syndrome SOP5 Definitive 07/24/2018
MAP2K2 Costello syndrome SOP5 No Reported Evidence 05/29/2018
MAP2K2 Noonan syndrome SOP5 Limited 06/01/2018
MAP2K2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 05/29/2018
MARVELD2 nonsyndromic genetic deafness SOP5 Definitive 08/29/2018
MAT1A brain demyelination due to methionine adenosyltransferase deficiency SOP6 Definitive 09/13/2019
MAT2A familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 07/03/2016
MAX hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
MBD5 complex neurodevelopmental disorder SOP6 Moderate 11/21/2018
MCCC1 3-methylcrotonyl-CoA carboxylase deficiency SOP6 Definitive 10/25/2019
MCCC2 3-methylcrotonyl-CoA carboxylase deficiency SOP6 Definitive 10/25/2019
MCM2 autosomal dominant nonsyndromic deafness 70 SOP4 Limited 01/04/2018
MCPH1 familial ovarian cancer SOP4 No Reported Evidence 01/11/2017
MCPH1 hereditary breast carcinoma SOP4 Limited 01/11/2017
MDH2 hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MECP2 Rett syndrome SOP5 Definitive 05/02/2018
MED12 MED12-related intellectual disability syndrome SOP5 Definitive 04/27/2018
MEF2C complex neurodevelopmental disorder SOP6 Definitive 02/06/2019
MEN1 hereditary pheochromocytoma-paraganglioma SOP4 Moderate 06/22/2017
MERTK hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MET hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/02/2017
MET papillary renal cell carcinoma SOP6 Definitive 10/11/2018
MET nonsyndromic genetic deafness SOP6 Limited 12/19/2017
MFAP5 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 12/22/2016
MID1 X-linked Opitz G/BBB syndrome SOP4 Definitive 03/21/2018
MITF hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MITF Waardenburg syndrome type 2 SOP5 Definitive 07/26/2018
MLH1 hereditary breast carcinoma SOP4 Disputed 06/14/2017
MLH1 colorectal cancer, hereditary nonpolyposis, type 2 SOP4 Definitive 07/10/2017
MLH1 constitutional mismatch repair deficiency syndrome SOP6 Definitive 10/09/2018
MLH3 hereditary nonpolyposis colon cancer SOP4 Moderate 02/14/2017
MLYCD malonic aciduria SOP6 Definitive 06/26/2018
MMACHC methylmalonic aciduria and homocystinuria type cblC SOP6 Definitive 05/24/2019
MRAS Costello syndrome SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
MRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome SOP5 Limited 06/06/2018
MRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
MRE11 hereditary breast carcinoma SOP4 Disputed 10/25/2017
MRE11 familial ovarian cancer SOP4 Disputed 10/25/2017
MSH2 Lynch syndrome SOP4 Definitive 09/11/2017
MSH2 hereditary breast carcinoma SOP4 Disputed 10/11/2017
MSH2 constitutional mismatch repair deficiency syndrome SOP6 Definitive 10/09/2018
MSH3 MSH3-related attenuated familial adenomatous polyposis SOP4 Moderate 12/13/2016
MSH3 hereditary nonpolyposis colon cancer SOP4 Limited 11/13/2017
MSH6 Lynch syndrome SOP4 Definitive 09/25/2017
MSH6 hereditary breast carcinoma SOP4 Disputed 07/26/2017
MSH6 constitutional mismatch repair deficiency syndrome SOP6 Definitive 10/09/2018
MSRB3 nonsyndromic genetic deafness SOP6 Moderate 11/15/2017
MTHFR homocystinuria due to methylene tetrahydrofolate reductase deficiency SOP6 Definitive 06/18/2019
MUT methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency SOP6 Definitive 05/09/2019
MUTYH hereditary breast carcinoma SOP4 No Reported Evidence 05/24/2017
MUTYH hereditary breast carcinoma SOP4 No Reported Evidence 05/25/2017
MUTYH familial ovarian cancer SOP4 Limited 11/29/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis SOP4 Moderate 10/09/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis SOP4 Definitive 06/12/2017
MUTYH familial ovarian cancer SOP4 Limited 11/29/2017
MYBPC3 hypertrophic cardiomyopathy 4 SOP4 Definitive 09/05/2017
MYH11 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 07/03/2016
MYH14 nonsyndromic genetic deafness SOP6 Definitive 06/19/2018
MYH6 hypertrophic cardiomyopathy SOP4 Limited 11/01/2017
MYH7 hypertrophic cardiomyopathy SOP4 Definitive 12/02/2017
MYH9 MYH-9 related disease SOP5 Definitive 07/17/2018
MYL2 hypertrophic cardiomyopathy 10 SOP4 Definitive 02/07/2017
MYL3 hypertrophic cardiomyopathy SOP4 Definitive 10/04/2016
MYLK familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 12/18/2016
MYLK2 hypertrophic cardiomyopathy SOP6 Limited 04/17/2017
MYO15A nonsyndromic genetic deafness SOP6 Definitive 11/21/2017
MYO1A nonsyndromic genetic deafness SOP6 Refuted 01/16/2018
MYO1C autosomal dominant nonsyndromic deafness SOP5 Disputed 06/28/2018
MYO1F nonsyndromic genetic deafness SOP5 Disputed 08/22/2018
MYO3A nonsyndromic genetic deafness SOP6 Strong 11/15/2017
MYO6 nonsyndromic genetic deafness SOP6 Definitive 02/20/2018
MYO7A Usher syndrome type 1 SOP5 Definitive 06/29/2018
MYO7A nonsyndromic genetic deafness SOP6 Definitive 03/19/2018
MYO9A arthrogryposis syndrome SOP4 Limited 11/24/2016
MYOM1 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
MYOZ2 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
MYPN hypertrophic cardiomyopathy SOP4 Limited 06/05/2017
NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency SOP6 Moderate 02/27/2018
NAGS hyperammonemia due to N-acetylglutamate synthase deficiency SOP6 Definitive 07/26/2019
NARS2 nonsyndromic genetic deafness SOP6 Limited 12/19/2017
NBEAL2 gray platelet syndrome SOP6 Definitive 06/26/2019
NBN hereditary breast carcinoma SOP4 Limited 09/27/2017
NBN Nijmegen breakage syndrome SOP6 Definitive 08/14/2019
NDP Norrie disease SOP4 Definitive 03/21/2018
NDUFA1 Leigh syndrome SOP6 Moderate 05/20/2019
NDUFA2 Leigh syndrome SOP6 Moderate 05/20/2019
NDUFS1 Leigh syndrome SOP6 Definitive 06/20/2019
NDUFS3 Leigh syndrome SOP6 Moderate 06/20/2019
NDUFS4 Leigh syndrome SOP6 Definitive 04/08/2019
NEXN hypertrophic cardiomyopathy 20 SOP4 Limited 11/01/2016
NF1 familial ovarian cancer SOP4 No Reported Evidence 02/22/2017
NF1 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
NF1 obsolete neurofibromatosis, type 1 SOP6 Definitive 02/27/2019
NF2 neurofibromatosis type 2 SOP6 Definitive 02/27/2019
NFKBIZ hereditary nonpolyposis colon cancer SOP4 Limited 07/10/2017
NGLY1 NGLY1-deficiency SOP4 Definitive 12/01/2016
NHP2 dyskeratosis congenita, autosomal recessive 2 SOP4 Limited 01/25/2017
NHS Nance-Horan syndrome SOP4 Definitive 10/20/2017
NIPBL Cornelia de Lange syndrome SOP5 Definitive 06/20/2018
NLGN3 complex neurodevelopmental disorder SOP5 Moderate 09/19/2018
NLGN4X complex neurodevelopmental disorder SOP6 Definitive 07/17/2019
NOTCH1 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 04/06/2016
NRAS cardiofaciocutaneous syndrome SOP5 Limited 07/24/2018
NRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/30/2018
NRAS Costello syndrome SOP5 Limited 07/24/2018
NRAS Noonan syndrome SOP5 Definitive 05/30/2018
NRAS Noonan syndrome with multiple lentigines SOP5 Limited 05/30/2018
NRXN1 complex neurodevelopmental disorder SOP6 Definitive 07/10/2019
NSD1 Sotos syndrome SOP6 Definitive 10/26/2018
NSUN2 intellectual disability SOP6 Moderate 02/06/2019
NSUN2 RASopathy SOP6 Disputed 02/04/2019
NTHL1 NTHL1-related attenuated familial adenomatous polyposis SOP4 Moderate 06/08/2017
OAT gyrate atrophy SOP6 Definitive 07/10/2019
OBSCN hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
OFD1 ciliopathy SOP5 Definitive 04/27/2018
OSBPL2 nonsyndromic genetic deafness SOP6 Moderate 05/16/2017
OTC ornithine carbamoyltransferase deficiency SOP6 Definitive 10/29/2019
OTOA nonsyndromic genetic deafness SOP6 Definitive 05/01/2018
OTOF autosomal recessive nonsyndromic deafness 9 SOP4 Definitive 01/30/2017
OTOG nonsyndromic genetic deafness SOP6 Definitive 06/28/2018
OTOGL nonsyndromic genetic deafness SOP6 Definitive 01/05/2018
P2RX2 nonsyndromic genetic deafness SOP6 Moderate 02/20/2018
PAK3 X-linked syndromic intellectual disability SOP5 Definitive 08/15/2018
PALB2 familial ovarian cancer SOP4 Moderate 11/08/2017
PALB2 hereditary nonpolyposis colon cancer SOP4 Limited 03/12/2018
PALB2 hereditary breast carcinoma SOP4 Definitive 12/01/2016
PALB2 Fanconi anemia complementation group N SOP6 Definitive 08/18/2019
PAX3 Waardenburg syndrome SOP6 Definitive 11/15/2017
PCDH15 Usher syndrome type 1 SOP4 Definitive 02/15/2017
PCDH15 nonsyndromic genetic deafness SOP6 Limited 06/19/2018
PCDH19 epilepsy SOP6 Definitive 09/04/2018
PDHA1 Leigh syndrome SOP6 Definitive 04/08/2019
PDLIM3 hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
PDZD7 autosomal recessive nonsyndromic deafness SOP4 Definitive 04/26/2017
PET100 Leigh syndrome SOP6 Moderate 05/20/2019
PET117 Leigh syndrome SOP6 Limited 05/20/2019
PHF6 Borjeson-Forssman-Lehmann syndrome SOP4 Definitive 02/21/2018
PHF8 syndromic X-linked intellectual disability Siderius type SOP6 Definitive 11/07/2018
PHGDH neurometabolic disorder due to serine deficiency SOP6 Definitive 05/24/2019
PIK3CA hereditary breast carcinoma SOP4 No Reported Evidence 02/08/2017
PIK3CA familial ovarian cancer SOP4 No Reported Evidence 02/08/2017
PIK3R1 SHORT syndrome SOP5 Definitive 07/06/2018
PJVK nonsyndromic genetic deafness SOP6 Definitive 12/19/2017
PKD1 polycystic kidney disease 1 SOP4 Definitive 03/24/2018
PKD1 autosomal dominant polycystic kidney disease SOP6 Definitive 05/22/2019
PKD2 autosomal dominant polycystic kidney disease SOP6 Definitive 05/22/2019
PKP2 Brugada syndrome 1 SOP4 Disputed
PKP2 arrhythmogenic right ventricular dysplasia 9 SOP4 Definitive 03/08/2017
PLG hypoplasminogenemia SOP6 Definitive 10/23/2019
PLN cardiomyopathy SOP4 Definitive 09/19/2017
PLP1 Pelizaeus-Merzbacher disease SOP4 Definitive 03/07/2018
PMS1 Lynch syndrome SOP4 Refuted 05/22/2017
PMS2 hereditary breast carcinoma SOP4 Disputed 11/08/2017
PMS2 Lynch syndrome SOP4 Definitive 06/26/2017
PMS2 constitutional mismatch repair deficiency syndrome SOP6 Definitive 10/09/2018
PNPT1 autosomal recessive nonsyndromic deafness SOP4 Limited 02/23/2017
POLD1 Polymerase proofreading-related adenomatous polyposis SOP4 Definitive 04/10/2017
POLE Polymerase proofreading-related adenomatous polyposis SOP4 Definitive 12/11/2017
POLH xeroderma pigmentosum variant type SOP6 Definitive 11/02/2018
POU3F4 nonsyndromic genetic deafness SOP6 Definitive 01/05/2018
POU4F3 nonsyndromic genetic deafness SOP6 Definitive 11/21/2017
PPP1CB cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome SOP5 No Reported Evidence 07/24/2018
PPP1CB Costello syndrome SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome-like disorder with loose anagen hair SOP5 Strong 07/25/2018
PPP1CB Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/05/2018
PQBP1 Renpenning syndrome SOP6 Definitive 11/09/2018
PRKAG2 hypertrophic cardiomyopathy SOP4 Definitive 01/30/2017
PRKAR1A Carney complex, type 1 SOP6 Definitive 12/21/2018
PRKG1 familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 12/22/2016
PRODH2 hydroxyprolinemia (disease) SOP6 Limited 09/13/2019
PRPS1 phosphoribosylpyrophosphate synthetase superactivity SOP6 Limited 07/09/2018
PRPS1 PRPS1 deficiency disorder SOP6 Definitive 07/09/2018
PSAT1 neurometabolic disorder due to serine deficiency SOP6 Moderate 05/24/2019
PSD3 antecubital pterygium syndrome SOP4 Limited 11/24/2016
PSPH neurometabolic disorder due to serine deficiency SOP6 Limited 04/26/2019
PTCD3 Leigh syndrome SOP6 Limited 06/20/2019
PTCH1 nevoid basal cell carcinoma syndrome SOP5 Definitive 06/04/2018
PTCH2 nevoid basal cell carcinoma syndrome SOP6 Limited 10/12/2018
PTCHD1 non-syndromic X-linked intellectual disability SOP5 Definitive 09/19/2018
PTEN PTEN hamartoma tumor syndrome SOP4 Definitive 10/09/2017
PTPN11 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
PTPN11 Noonan syndrome with multiple lentigines SOP5 Definitive 07/25/2018
PTPN11 Noonan syndrome SOP5 Definitive 07/24/2018
PTPN11 cardiofaciocutaneous syndrome SOP5 Disputed 05/30/2018
PTPN11 Costello syndrome SOP5 Disputed 07/24/2018
PTPRJ hereditary nonpolyposis colon cancer SOP6 Limited 10/12/2018
PTPRQ autosomal recessive nonsyndromic deafness SOP4 Definitive 02/23/2017
PTS BH4-deficient hyperphenylalaninemia A SOP6 Definitive 12/22/2017
PURA complex neurodevelopmental disorder SOP6 Definitive 12/18/2018
PYROXD1 myofibrillar myopathy 8 SOP6 Definitive 11/05/2019
RAB28 cone-rod dystrophy 18 SOP5 Limited 07/06/2018
RAB39B early-onset parkinsonism-intellectual disability syndrome SOP5 Definitive 06/04/2018
RAD50 familial ovarian cancer SOP4 Disputed 10/26/2016
RAD50 hereditary breast carcinoma SOP4 Limited 12/14/2016
RAD51C Fanconi anemia complementation group O SOP4 Moderate 01/05/2017
RAD51C familial ovarian cancer SOP4 Definitive 04/12/2017
RAD51C hereditary breast carcinoma SOP4 Disputed 05/10/2017
RAD51D hereditary breast carcinoma SOP4 Limited 11/08/2017
RAD51D familial ovarian cancer SOP4 Definitive 10/11/2017
RAF1 cardiofaciocutaneous syndrome SOP5 Disputed 05/31/2018
RAF1 Noonan syndrome with multiple lentigines SOP5 Limited 07/25/2018
RAF1 Noonan syndrome SOP5 Definitive 07/24/2018
RAF1 Costello syndrome SOP5 Disputed 07/24/2018
RAF1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
RAI1 Smith-Magenis syndrome SOP5 Definitive 09/27/2018
RANGRF Brugada syndrome SOP4 Disputed
RASA1 Noonan syndrome SOP5 Disputed 06/07/2018
RASA1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/07/2018
RASA1 Costello syndrome SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
RASA2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/07/2018
RASA2 Costello syndrome SOP5 No Reported Evidence 06/07/2018
RASA2 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
RASA2 Noonan syndrome SOP5 Limited 07/24/2018
RASA2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
RASGRP2 platelet-type bleeding disorder 18 SOP6 Definitive 09/27/2019
RDX nonsyndromic genetic deafness SOP6 Definitive 01/02/2018
RECQL familial ovarian cancer SOP4 No Reported Evidence 09/14/2016
RECQL hereditary breast carcinoma SOP4 Moderate 09/28/2016
RECQL4 Rothmund-Thomson syndrome SOP6 Definitive 10/11/2018
RELN complex neurodevelopmental disorder SOP6 Disputed 05/01/2019
RET hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
RINT1 hereditary breast carcinoma SOP4 Disputed 09/26/2016
RINT1 familial ovarian cancer SOP4 No Reported Evidence 09/14/2016
RIPOR2 autosomal recessive nonsyndromic deafness SOP4 Strong 02/06/2017
RIT1 Costello syndrome SOP5 No Reported Evidence 07/24/2018
RIT1 Noonan syndrome SOP5 Definitive 07/24/2018
RIT1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
RNF43 sessile serrated polyposis cancer syndrome; SSPCS SOP4 Limited 10/23/2017
ROR1 nonsyndromic genetic deafness SOP6 Limited 03/20/2018
RPE65 Leber congenital amaurosis SOP4 Definitive 02/13/2018
RPE65 retinitis pigmentosa SOP4 Moderate 03/05/2018
RPL10 X-linked syndromic intellectual disability SOP5 Limited 04/27/2018
RPS10 Diamond-Blackfan anemia 9 SOP4 Definitive 01/19/2017
RPS20 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
RPS24 Diamond-Blackfan anemia SOP4 Definitive 01/19/2017
RPS6KA3 Coffin-Lowry syndrome SOP6 Definitive 05/28/2019
RRAS Costello syndrome SOP5 No Reported Evidence 06/06/2018
RRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
RRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
RRAS Noonan syndrome SOP5 Limited 07/24/2018
RRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
RRAS2 Noonan syndrome SOP6 Strong 06/27/2019
RUNX1 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome SOP5 Definitive 06/04/2018
RYR2 catecholaminergic polymorphic ventricular tachycardia 1 SOP4 Definitive 03/08/2017
RYR2 hypertrophic cardiomyopathy SOP4 Limited 04/02/2018
RYR3 undetermined early-onset epileptic encephalopathy SOP6 Limited 06/19/2018
S1PR2 autosomal recessive nonsyndromic deafness 68 SOP4 Strong 03/02/2017
SARDH sarcosinemia SOP6 Limited 06/28/2019
SCN10A Brugada syndrome 1 SOP4 Disputed
SCN1A Dravet syndrome SOP6 Definitive 08/20/2019
SCN1A generalized epilepsy with febrile seizures plus SOP6 Definitive 09/06/2019
SCN1A early infantile epileptic encephalopathy SOP6 Strong 10/25/2019
SCN1B Brugada syndrome 1 SOP4 Disputed
SCN2A complex neurodevelopmental disorder SOP6 Definitive 05/07/2019
SCN2B Brugada syndrome 1 SOP4 Disputed
SCN3B Brugada syndrome 1 SOP4 Disputed
SCN4B familial long QT syndrome SOP4 Limited 12/15/2016
SCN5A Brugada syndrome SOP4 Definitive
SCN8A undetermined early-onset epileptic encephalopathy SOP4 Definitive 10/20/2017
SCN8A complex neurodevelopmental disorder SOP5 Definitive 07/18/2018
SCN9A epilepsy SOP5 Limited 06/15/2018
SCO2 Leigh syndrome SOP6 Definitive 03/28/2019
SDHA hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHA Leigh syndrome SOP6 Moderate 05/20/2019
SDHAF2 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHB hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHC hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHD hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SEMA4A hereditary nonpolyposis colon cancer SOP4 Limited 11/13/2017
SERPINB6 nonsyndromic genetic deafness SOP6 Moderate 04/24/2018
SERPINB8 exfoliative ichthyosis SOP5 Limited 07/06/2018
SHANK2 complex neurodevelopmental disorder SOP6 Definitive 07/17/2019
SHANK3 Phelan McDermid syndrome SOP6 Definitive 12/12/2018
SHOC2 Noonan syndrome SOP5 Disputed 05/31/2018
SHOC2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/01/2018
SHOC2 Costello syndrome SOP5 Disputed 07/24/2018
SHOC2 cardiofaciocutaneous syndrome SOP5 Disputed 06/01/2018
SHOC2 Noonan syndrome-like disorder with loose anagen hair SOP5 Definitive 07/25/2018
SIK1 early infantile epileptic encephalopathy SOP6 Limited 10/02/2018
SIX1 branchio-oto-renal syndrome SOP6 Definitive 06/22/2017
SIX5 branchio-oto-renal syndrome SOP5 Disputed 08/23/2018
SKI Shprintzen-Goldberg syndrome SOP4 Definitive 12/01/2016
SLC16A2 Allan-Herndon-Dudley syndrome SOP5 Definitive 08/09/2018
SLC17A8 nonsyndromic genetic deafness SOP6 Strong 09/18/2018
SLC19A3 Leigh syndrome SOP6 Definitive 01/14/2019
SLC1A1 dicarboxylic aminoaciduria SOP6 Limited 10/11/2019
SLC22A5 systemic primary carnitine deficiency disease SOP6 Definitive 04/24/2018
SLC25A20 carnitine-acylcarnitine translocase deficiency SOP6 Definitive 05/22/2018
SLC25A4 mitochondrial DNA depletion syndrome 12 SOP4 Definitive
SLC26A4 Pendred syndrome SOP5 Definitive 08/02/2018
SLC26A5 nonsyndromic genetic deafness SOP6 Limited 12/19/2017
SLC2A1 GLUT1 deficiency syndrome SOP6 Definitive 04/18/2019
SLC2A10 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 04/17/2016
SLC3A1 cystinuria (disease) SOP6 Definitive 07/26/2019
SLC44A4 nonsyndromic genetic deafness SOP6 Limited 04/24/2018
SLC52A1 maternal riboflavin deficiency SOP6 Limited 09/25/2018
SLC52A2 brown-Vialetto-van Laere syndrome 2 SOP6 Definitive 07/09/2018
SLC52A3 Brown-Vialetto-van Laere syndrome SOP6 Definitive 09/18/2018
SLC6A4 complex neurodevelopmental disorder SOP5 Limited 09/24/2018
SLC6A4 complex neurodevelopmental disorder SOP6 Limited 05/02/2018
SLC7A9 cystinuria (disease) SOP6 Definitive 07/26/2019
SLC9A6 Christianson syndrome SOP5 Definitive 05/02/2018
SLITRK6 high myopia-sensorineural deafness syndrome SOP6 Strong 03/20/2018
SLMAP Brugada syndrome SOP4 Disputed
SLX4 hereditary breast carcinoma SOP4 Limited 03/08/2017
SLX4 familial ovarian cancer SOP4 No Reported Evidence 03/08/2017
SMAD2 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 04/10/2017
SMAD3 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 12/22/2016
SMAD3 aneurysm-osteoarthritis syndrome SOP4 Definitive 12/01/2016
SMAD4 generalized juvenile polyposis/juvenile polyposis coli SOP4 Definitive 06/26/2017
SMARCA1 Coffin-Siris syndrome SOP4 Moderate 11/15/2016
SMARCA4 hereditary nonpolyposis colon cancer SOP4 Limited 05/08/2017
SMARCA4 rhabdoid tumor predisposition syndrome 2 SOP5 Definitive 06/29/2018
SMARCB1 rhabdoid tumor predisposition syndrome 1 SOP6 Definitive 10/12/2018
SMC1A complex neurodevelopmental disorder SOP6 Definitive 06/19/2019
SMPX nonsyndromic genetic deafness SOP6 Definitive 09/12/2017
SMS syndromic X-linked intellectual disability Snyder type SOP5 Definitive 05/16/2018
SNAI2 Waardenburg syndrome SOP5 Limited 08/23/2018
SOS1 Noonan syndrome SOP5 Definitive 07/24/2018
SOS1 Costello syndrome SOP5 Disputed 07/24/2018
SOS1 cardiofaciocutaneous syndrome SOP5 Disputed 06/01/2018
SOS1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/01/2018
SOS1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/01/2018
SOS2 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
SOS2 Costello syndrome SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome SOP5 Moderate 07/25/2018
SOX10 Waardenburg syndrome type 4C SOP6 Definitive 06/19/2018
SPRED1 Legius syndrome SOP6 Definitive 01/24/2019
SPTAN1 undetermined early-onset epileptic encephalopathy SOP6 Definitive 01/17/2019
SRPX2 rolandic epilepsy-speech dyspraxia syndrome SOP5 Disputed 07/19/2018
STK11 Peutz-Jeghers syndrome SOP4 Definitive 02/22/2017
STK11 familial ovarian cancer SOP4 No Reported Evidence 10/26/2016
STRC nonsyndromic genetic deafness SOP6 Definitive 12/19/2017
STXBP1 infantile epilepsy syndrome SOP5 Definitive 06/01/2018
SUCLA2 Leigh syndrome SOP6 Definitive 04/18/2019
SUCLG1 Leigh syndrome SOP6 Moderate 04/18/2019
SUFU medulloblastoma SOP6 Definitive 10/11/2018
SUOX isolated sulfite oxidase deficiency SOP6 Definitive 03/22/2019
SURF1 Leigh syndrome SOP6 Definitive 04/08/2019
SYN1 complex neurodevelopmental disorder SOP6 Moderate 12/05/2018
SYNE4 nonsyndromic genetic deafness SOP6 Moderate 09/08/2017
SYNGAP1 complex neurodevelopmental disorder SOP6 Definitive 04/02/2019
SYP non-syndromic X-linked intellectual disability SOP4 Limited 12/20/2017
TACO1 Leigh syndrome SOP6 Moderate 10/16/2019
TAT tyrosinemia type II SOP6 Definitive 03/08/2019
TBC1D24 nonsyndromic genetic deafness SOP6 Limited 03/27/2018
TCAP hypertrophic cardiomyopathy SOP4 Limited 04/10/2017
TCF4 Pitt-Hopkins syndrome SOP5 Definitive 05/02/2018
TCOF1 Treacher-Collins syndrome SOP6 Definitive 09/17/2019
TECTA nonsyndromic genetic deafness SOP5 Definitive 09/12/2018
TECTA nonsyndromic genetic deafness SOP6 Definitive 01/02/2018
TGFB2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 05/06/2016
TGFB3 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
TGFBR1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 10/12/2016
TGFBR1 Loeys-Dietz syndrome SOP6 Definitive 03/27/2019
TGFBR2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 02/15/2016
TH tyrosine hydroxylase deficiency SOP6 Definitive 03/22/2019
TIMM8A deafness dystonia syndrome SOP6 Definitive 12/19/2017
TJP2 nonsyndromic genetic deafness SOP6 Limited 12/19/2017
TMC1 autosomal recessive nonsyndromic deafness 7 SOP4 Definitive 02/15/2017
TMC1 nonsyndromic genetic deafness SOP6 Definitive 06/22/2018
TMEM127 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
TMEM132E autosomal recessive nonsyndromic deafness SOP4 Limited 11/21/2017
TMIE nonsyndromic genetic deafness SOP6 Definitive 09/29/2017
TMPO familial isolated dilated cardiomyopathy SOP4 Refuted 11/30/2016
TMPO hypertrophic cardiomyopathy SOP5 No Reported Evidence 08/01/2018
TMPRSS3 nonsyndromic genetic deafness SOP6 Definitive 08/22/2017
TMTC2 nonsyndromic genetic deafness SOP5 Disputed 08/22/2018
TNC nonsyndromic genetic deafness SOP6 Limited 03/20/2018
TNNC1 hypertrophic cardiomyopathy SOP4 Moderate 11/01/2016
TNNC2 hypertrophic cardiomyopathy SOP4 No Reported Evidence 04/04/2017
TNNI3 hypertrophic cardiomyopathy SOP4 Definitive 09/05/2017
TNNT2 hypertrophic cardiomyopathy SOP4 Definitive 11/07/2017
TP53 Li-Fraumeni syndrome SOP4 Definitive 01/10/2018
TP53 familial ovarian cancer SOP4 Limited 01/10/2018
TPM1 hypertrophic cardiomyopathy SOP4 Definitive 12/20/2016
TPRN nonsyndromic genetic deafness SOP6 Definitive 09/12/2017
TRIM63 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
TRIOBP autosomal recessive nonsyndromic deafness SOP4 Definitive 06/06/2017
TRPM4 Brugada syndrome SOP4 Disputed
TSC1 tuberous sclerosis 1 SOP4 Definitive 03/01/2017
TSC1 tuberous sclerosis SOP6 Definitive 01/23/2019
TSC2 tuberous sclerosis 1 SOP4 Definitive 03/08/2017
TSC2 tuberous sclerosis SOP6 Definitive 01/23/2019
TSPAN7 intellectual disability, X-linked 58 SOP4 Limited 02/08/2018
TSPEAR nonsyndromic genetic deafness SOP6 Disputed 09/26/2017
TTC19 Leigh syndrome SOP6 Definitive 09/19/2019
TTN hypertrophic cardiomyopathy SOP4 Limited 12/14/2017
TTR hereditary ATTR amyloidosis SOP4 Definitive 12/11/2017
TUBB4B Leber congenital amaurosis with early-onset deafness SOP6 Moderate 06/26/2018
UBE2A syndromic X-linked intellectual disability Nascimento type SOP5 Definitive 07/13/2018
UBE3A Angelman syndrome SOP5 Definitive 05/02/2018
UPF3B complex neurodevelopmental disorder SOP6 Definitive 07/03/2019
UQCRQ Leigh syndrome SOP6 Limited 10/16/2019
USH1C Usher syndrome type 1 SOP4 Definitive 02/15/2017
USH1C nonsyndromic genetic deafness SOP6 Limited 06/11/2018
USH1G Usher syndrome type 1 SOP4 Definitive 02/15/2017
USH1G nonsyndromic genetic deafness SOP6 Disputed 05/21/2019
USH2A Usher syndrome type 2 SOP4 Definitive 02/15/2017
VCL hypertrophic cardiomyopathy SOP4 Limited 06/01/2017
VHL hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/16/2017
VPS13B Cohen syndrome SOP6 Definitive 11/13/2018
VPS8 arthrogryposis multiplex congenita SOP4 Limited 11/24/2016
WAS Wiskott-Aldrich syndrome SOP6 Definitive 10/12/2018
WBP2 autosomal recessive nonsyndromic deafness SOP6 Limited 12/09/2018
WDR45 complex neurodevelopmental disorder SOP6 Definitive 06/18/2019
WFS1 Wolfram syndrome SOP5 Definitive 09/11/2018
WFS1 Wolfram-like syndrome SOP6 Definitive 04/17/2018
WHRN Usher syndrome type 2D SOP4 Definitive 05/10/2017
WHRN nonsyndromic genetic deafness SOP6 Moderate 12/26/2018
WRAP53 dyskeratosis congenita SOP4 Moderate 01/25/2017
WRN Werner syndrome SOP6 Definitive 10/09/2018
XPA xeroderma pigmentosum group A SOP6 Definitive 11/02/2018
XPC xeroderma pigmentosum group C SOP6 Definitive 11/02/2018
XRCC2 hereditary breast carcinoma SOP4 Limited 05/10/2017
XRCC2 familial ovarian cancer SOP4 No Reported Evidence 04/26/2017
XRCC4 hereditary nonpolyposis colon cancer SOP4 Limited 05/08/2017
ZEB2 Mowat-Wilson syndrome SOP5 Definitive 05/24/2018
ZNF292 complex neurodevelopmental disorder SOP6 Limited 01/15/2019
ZNF81 non-syndromic X-linked intellectual disability SOP5 Disputed 06/28/2018