1271 ClinGen Curated Genes Summaries

Gene Gene-Disease Clinical
Validity Classifications
Actionability
Evidence-Based Summaries
Dosage Sensitivity Map
Haploinsufficiency
Dosage Sensitivity Map
Triplosensitivity
A4GALT Associated with Autosomal Recessive Phenotype No Evidence
AAGAB Sufficient Evidence No Evidence
AARS2 Associated with Autosomal Recessive Phenotype
AASS Associated with Autosomal Recessive Phenotype
ABAT Associated with Autosomal Recessive Phenotype
ABCC8 Associated with Autosomal Recessive Phenotype
ABCD1 Sufficient Evidence No Evidence
ABCG5 Associated with Autosomal Recessive Phenotype
ABCG8 Associated with Autosomal Recessive Phenotype
ABHD12 Associated with Autosomal Recessive Phenotype No Evidence
ABR No Evidence No Evidence
ACAD8 Associated with Autosomal Recessive Phenotype No Evidence
ACADM Associated with Autosomal Recessive Phenotype
ACADSB Associated with Autosomal Recessive Phenotype
ACADVL Associated with Autosomal Recessive Phenotype
ACOX1 Associated with Autosomal Recessive Phenotype No Evidence
ACP5 Associated with Autosomal Recessive Phenotype
ACSF3 Associated with Autosomal Recessive Phenotype
ACSL4 Sufficient Evidence No Evidence
ACTA2 Summary Available No Evidence No Evidence
ACTB No Evidence No Evidence
ACTC1 Summary Available Minimal Evidence No Evidence
ACVRL1 Summary Available Sufficient Evidence No Evidence
ADA2 Associated with Autosomal Recessive Phenotype
ADAM9 Associated with Autosomal Recessive Phenotype No Evidence
ADAMTS2 Associated with Autosomal Recessive Phenotype
ADAMTS13 Associated with Autosomal Recessive Phenotype
ADAMTS17 Associated with Autosomal Recessive Phenotype
ADAMTS18 Associated with Autosomal Recessive Phenotype
ADAMTSL2 Associated with Autosomal Recessive Phenotype
ADGRG1 Associated with Autosomal Recessive Phenotype No Evidence
ADGRV1 Definitive
ADSL Associated with Autosomal Recessive Phenotype
AFF2 Sufficient Evidence No Evidence
AGA Associated with Autosomal Recessive Phenotype
AGK Associated with Autosomal Recessive Phenotype No Evidence
AGPAT2 Associated with Autosomal Recessive Phenotype
AGRN Associated with Autosomal Recessive Phenotype
AGT Associated with Autosomal Recessive Phenotype No Evidence
AGTR2 Disputed No Evidence No Evidence
AGXT Associated with Autosomal Recessive Phenotype
AHCY Associated with Autosomal Recessive Phenotype No Evidence
AHI1 Associated with Autosomal Recessive Phenotype
AICDA Associated with Autosomal Recessive Phenotype
AIMP1 Associated with Autosomal Recessive Phenotype
AKAP9 Limited
AKT2 No Evidence No Evidence
AKT3 Minimal Evidence No Evidence
ALAD Associated with Autosomal Recessive Phenotype
ALDH1A3 Associated with Autosomal Recessive Phenotype
ALDH3A2 Associated with Autosomal Recessive Phenotype
ALDH4A1 Associated with Autosomal Recessive Phenotype No Evidence
ALDH5A1 Associated with Autosomal Recessive Phenotype
ALDOA Associated with Autosomal Recessive Phenotype
ALG1 Associated with Autosomal Recessive Phenotype
ALG2 Associated with Autosomal Recessive Phenotype
ALG6 Associated with Autosomal Recessive Phenotype
ALG12 Associated with Autosomal Recessive Phenotype
ALMS1 Definitive Associated with Autosomal Recessive Phenotype
ALS2 Associated with Autosomal Recessive Phenotype
ALX4 Sufficient Evidence No Evidence
AMH Associated with Autosomal Recessive Phenotype
AMN Associated with Autosomal Recessive Phenotype
ANGPTL3 Associated with Autosomal Recessive Phenotype
ANKRD11 Sufficient Evidence No Evidence
ANKS6 Associated with Autosomal Recessive Phenotype
ANOS1 Sufficient Evidence No Evidence
ANTXR2 Associated with Autosomal Recessive Phenotype
AP1S2 Sufficient Evidence No Evidence
AP4B1 Associated with Autosomal Recessive Phenotype
AP4S1 Associated with Autosomal Recessive Phenotype
APC Summary Available Sufficient Evidence No Evidence
APOB Summary Available No Evidence No Evidence
APOC2 Associated with Autosomal Recessive Phenotype
APP No Evidence Moderate Evidence
AR Sufficient Evidence No Evidence
ARFGEF2 Associated with Autosomal Recessive Phenotype
ARG1 Associated with Autosomal Recessive Phenotype
ARHGAP31 No Evidence No Evidence
ARHGEF6 No Evidence No Evidence
ARHGEF9 Some Evidence No Evidence
ARID1A Some Evidence No Evidence
ARID1B Sufficient Evidence No Evidence
ARL6 Associated with Autosomal Recessive Phenotype
ARL6IP1 Associated with Autosomal Recessive Phenotype
ARSA Associated with Autosomal Recessive Phenotype No Evidence
ARSD No Evidence No Evidence
ARSE Sufficient Evidence No Evidence
ARX Sufficient Evidence No Evidence
ASL Associated with Autosomal Recessive Phenotype
ASPA Associated with Autosomal Recessive Phenotype
ASPH Associated with Autosomal Recessive Phenotype
ASPM Associated with Autosomal Recessive Phenotype
ASXL1 Sufficient Evidence No Evidence
ATCAY Associated with Autosomal Recessive Phenotype
ATF6 Strong Associated with Autosomal Recessive Phenotype No Evidence
ATP2A1 Associated with Autosomal Recessive Phenotype
ATP6AP2 No Evidence No Evidence
ATP6V1E1 No Evidence No Evidence
ATP6V0A2 Associated with Autosomal Recessive Phenotype
ATP6V0A4 Associated with Autosomal Recessive Phenotype
ATP7A Sufficient Evidence No Evidence
ATP7B Summary Available Associated with Autosomal Recessive Phenotype No Evidence
ATP8A2 Minimal Evidence No Evidence
ATP10A No Evidence No Evidence
ATP13A2 Associated with Autosomal Recessive Phenotype
ATPAF2 Associated with Autosomal Recessive Phenotype
ATRX Sufficient Evidence No Evidence
AUTS2 Sufficient Evidence No Evidence
AVPR2 Sufficient Evidence No Evidence
B3GALNT2 Associated with Autosomal Recessive Phenotype
B3GALT6 Associated with Autosomal Recessive Phenotype
B4GALT1 Associated with Autosomal Recessive Phenotype
B4GALT7 Associated with Autosomal Recessive Phenotype
B9D1 Associated with Autosomal Recessive Phenotype
BAG3 Definitive Sufficient Evidence No Evidence
BBS5 Associated with Autosomal Recessive Phenotype No Evidence
BBS7 Associated with Autosomal Recessive Phenotype
BBS12 Associated with Autosomal Recessive Phenotype
BCHE Associated with Autosomal Recessive Phenotype
BCKDHB Associated with Autosomal Recessive Phenotype
BCKDK Associated with Autosomal Recessive Phenotype
BCOR Sufficient Evidence No Evidence
BCR No Evidence No Evidence
BCS1L Associated with Autosomal Recessive Phenotype
BIN1 Associated with Autosomal Recessive Phenotype
BLM Associated with Autosomal Recessive Phenotype
BLNK Associated with Autosomal Recessive Phenotype
BMP4 Some Evidence No Evidence
BMPER Associated with Autosomal Recessive Phenotype
BMPR1A Summary Available Sufficient Evidence No Evidence
BMPR2 Sufficient Evidence No Evidence
BPY2 No Evidence No Evidence
BRAF Minimal Evidence No Evidence
BRAT1 Associated with Autosomal Recessive Phenotype
BRCA1 Summary Available Sufficient Evidence No Evidence
BRCA2 Summary Available Sufficient Evidence No Evidence
BRWD3 Some Evidence No Evidence
BSND Associated with Autosomal Recessive Phenotype No Evidence
BTD Summary Available Associated with Autosomal Recessive Phenotype No Evidence
BTK Sufficient Evidence No Evidence
BTRC No Evidence No Evidence
C1QB Definitive Associated with Autosomal Recessive Phenotype No Evidence
C2orf71 Associated with Autosomal Recessive Phenotype
C5orf42 Associated with Autosomal Recessive Phenotype
C8orf37 Associated with Autosomal Recessive Phenotype
C15orf41 Associated with Autosomal Recessive Phenotype
C19orf12 Associated with Autosomal Recessive Phenotype
CA5A Associated with Autosomal Recessive Phenotype
CA8 Associated with Autosomal Recessive Phenotype
CA12 Associated with Autosomal Recessive Phenotype
CABP4 Associated with Autosomal Recessive Phenotype
CACNA1C Minimal Evidence No Evidence
CACNA1S Summary Available No Evidence No Evidence
CADPS2 No Evidence No Evidence
CANT1 Associated with Autosomal Recessive Phenotype
CAPN3 Associated with Autosomal Recessive Phenotype
CARD14 No Evidence No Evidence
CASK Sufficient Evidence No Evidence
CASQ2 Associated with Autosomal Recessive Phenotype
CASR No Evidence No Evidence
CATSPER2 Associated with Autosomal Recessive Phenotype No Evidence
CBFB No Evidence No Evidence
CBL No Evidence No Evidence
CBS Summary Available Associated with Autosomal Recessive Phenotype No Evidence
CC2D2A Associated with Autosomal Recessive Phenotype No Evidence
CCBE1 Associated with Autosomal Recessive Phenotype
CCDC8 Associated with Autosomal Recessive Phenotype
CCDC39 Associated with Autosomal Recessive Phenotype
CCDC40 Associated with Autosomal Recessive Phenotype
CCDC103 Associated with Autosomal Recessive Phenotype
CCT5 Associated with Autosomal Recessive Phenotype
CD3D Associated with Autosomal Recessive Phenotype
CD3E Definitive
CD3G Associated with Autosomal Recessive Phenotype
CD8A Associated with Autosomal Recessive Phenotype
CD19 Associated with Autosomal Recessive Phenotype
CD27 Associated with Autosomal Recessive Phenotype
CD36 Associated with Autosomal Recessive Phenotype
CD59 Associated with Autosomal Recessive Phenotype
CDAN1 Associated with Autosomal Recessive Phenotype
CDH1 Summary Available
CDH15 No Evidence No Evidence
CDH23 Definitive Associated with Autosomal Recessive Phenotype
CDHR1 Associated with Autosomal Recessive Phenotype
CDK5RAP2 Associated with Autosomal Recessive Phenotype
CDK6 Associated with Autosomal Recessive Phenotype
CDKL5 Sufficient Evidence No Evidence
CDKN1C Sufficient Evidence No Evidence
CDKN2A Summary Available
CDT1 Associated with Autosomal Recessive Phenotype
CDY1 No Evidence No Evidence
CEBPE Associated with Autosomal Recessive Phenotype
CENPJ Associated with Autosomal Recessive Phenotype
CENPP No Evidence No Evidence
CEP164 Associated with Autosomal Recessive Phenotype
CEP290 Associated with Autosomal Recessive Phenotype No Evidence
CERS3 Associated with Autosomal Recessive Phenotype
CFAP53 Associated with Autosomal Recessive Phenotype
CFC1 Some Evidence No Evidence
CFD Associated with Autosomal Recessive Phenotype
CFL2 Associated with Autosomal Recessive Phenotype
CFTR Associated with Autosomal Recessive Phenotype
CHAT Associated with Autosomal Recessive Phenotype
CHD1L Limited
CHD2 Sufficient Evidence No Evidence
CHD7 Sufficient Evidence No Evidence
CHD8 Some Evidence No Evidence
CHKB Associated with Autosomal Recessive Phenotype
CHM Sufficient Evidence No Evidence
CHMP1A Associated with Autosomal Recessive Phenotype
CHRDL1 Sufficient Evidence No Evidence
CHRM3 Minimal Evidence No Evidence
CHST6 Associated with Autosomal Recessive Phenotype
CHSY1 Associated with Autosomal Recessive Phenotype
CIDEC Associated with Autosomal Recessive Phenotype
CLCF1 Associated with Autosomal Recessive Phenotype
CLCN5 Sufficient Evidence No Evidence
CLCNKA Associated with Autosomal Recessive Phenotype No Evidence
CLCNKB Associated with Autosomal Recessive Phenotype No Evidence
CLDN14 Associated with Autosomal Recessive Phenotype
CLMP Associated with Autosomal Recessive Phenotype
CLN3 Associated with Autosomal Recessive Phenotype
CLN8 Associated with Autosomal Recessive Phenotype
CLNK No Evidence No Evidence
CLRN1 Associated with Autosomal Recessive Phenotype
CNGB1 Associated with Autosomal Recessive Phenotype
CNKSR2 Sufficient Evidence No Evidence
CNNM4 Associated with Autosomal Recessive Phenotype
CNTN1 Associated with Autosomal Recessive Phenotype
CNTN2 Associated with Autosomal Recessive Phenotype
CNTN4 Some Evidence
CNTNAP2 Minimal Evidence No Evidence
COG1 Associated with Autosomal Recessive Phenotype
COG4 Associated with Autosomal Recessive Phenotype
COG7 Associated with Autosomal Recessive Phenotype No Evidence
COG8 Associated with Autosomal Recessive Phenotype No Evidence
COL1A1 Sufficient Evidence No Evidence
COL1A2 No Evidence No Evidence
COL2A1 Moderate Sufficient Evidence No Evidence
COL3A1 Summary Available Sufficient Evidence No Evidence
COL4A3 Associated with Autosomal Recessive Phenotype No Evidence
COL4A5 Sufficient Evidence No Evidence
COL5A1 Summary Available
COL5A2 Summary Available
COL9A1 No Evidence No Evidence
COL9A2 No Evidence No Evidence
COL11A1 Minimal Evidence No Evidence
COLEC11 Associated with Autosomal Recessive Phenotype
COLQ Associated with Autosomal Recessive Phenotype
COQ2 Associated with Autosomal Recessive Phenotype
CORO1A Associated with Autosomal Recessive Phenotype
COX6B1 Associated with Autosomal Recessive Phenotype
COX10 Associated with Autosomal Recessive Phenotype
COX14 Associated with Autosomal Recessive Phenotype
COX15 Associated with Autosomal Recessive Phenotype
COX20 Associated with Autosomal Recessive Phenotype
CP Associated with Autosomal Recessive Phenotype
CPA4 No Evidence No Evidence
CPN1 Associated with Autosomal Recessive Phenotype
CPS1 Associated with Autosomal Recessive Phenotype
CPT1A Associated with Autosomal Recessive Phenotype
CRADD Associated with Autosomal Recessive Phenotype
CREBBP Sufficient Evidence No Evidence
CRHR1 No Evidence No Evidence
CRIPT Associated with Autosomal Recessive Phenotype
CRKL No Evidence No Evidence
CRTAP Associated with Autosomal Recessive Phenotype
CRYBA1 No Evidence No Evidence
CRYBB2 Minimal Evidence No Evidence
CRYGC No Evidence No Evidence
CSF2RB Associated with Autosomal Recessive Phenotype
CSPP1 Associated with Autosomal Recessive Phenotype
CSTB Associated with Autosomal Recessive Phenotype
CTDP1 Associated with Autosomal Recessive Phenotype
CTH Associated with Autosomal Recessive Phenotype
CTNND2 Some Evidence No Evidence
CTNS Associated with Autosomal Recessive Phenotype No Evidence
CTSB No Evidence No Evidence
CUBN Associated with Autosomal Recessive Phenotype
CUL4B Sufficient Evidence No Evidence
CYB5A Associated with Autosomal Recessive Phenotype
CYBB Sufficient Evidence No Evidence
CYP4F22 Associated with Autosomal Recessive Phenotype
CYP4V2 Associated with Autosomal Recessive Phenotype
CYP21A2 Associated with Autosomal Recessive Phenotype No Evidence
CYP24A1 Associated with Autosomal Recessive Phenotype
CYP27A1 Associated with Autosomal Recessive Phenotype
D2HGDH Associated with Autosomal Recessive Phenotype
DARS2 Associated with Autosomal Recessive Phenotype
DAZ1 No Evidence No Evidence
DBH Associated with Autosomal Recessive Phenotype
DBT Associated with Autosomal Recessive Phenotype
DCLRE1C Associated with Autosomal Recessive Phenotype
DCX Sufficient Evidence No Evidence
DCXR Associated with Autosomal Recessive Phenotype
DDB2 Associated with Autosomal Recessive Phenotype
DDHD1 Associated with Autosomal Recessive Phenotype No Evidence
DDOST Associated with Autosomal Recessive Phenotype
DGKE Associated with Autosomal Recessive Phenotype
DGUOK Associated with Autosomal Recessive Phenotype
DHCR7 Associated with Autosomal Recessive Phenotype No Evidence
DHODH Associated with Autosomal Recessive Phenotype
DICER1 Definitive
DIRAS3 No Evidence No Evidence
DISC1 No Evidence No Evidence
DISP1 No Evidence No Evidence
DKC1 Minimal Evidence No Evidence
DLG3 Sufficient Evidence No Evidence
DLGAP2 No Evidence No Evidence
DLK1 No Evidence No Evidence
DLX1 No Evidence No Evidence
DLX2 No Evidence No Evidence
DLX5 No Evidence No Evidence
DLX6 No Evidence No Evidence
DMD Sufficient Evidence No Evidence
DMP1 Associated with Autosomal Recessive Phenotype
DMRT1 Some Evidence No Evidence
DMRT2 No Evidence No Evidence
DMXL2 Moderate No Evidence No Evidence
DNAAF1 Associated with Autosomal Recessive Phenotype
DNAH5 Associated with Autosomal Recessive Phenotype
DNAH11 Associated with Autosomal Recessive Phenotype
DNAI1 Associated with Autosomal Recessive Phenotype
DNAI2 Associated with Autosomal Recessive Phenotype
DNAJB6 No Evidence No Evidence
DNAJC6 Associated with Autosomal Recessive Phenotype
DNASE1 No Evidence No Evidence
DNMT1 Definitive
DOCK7 Associated with Autosomal Recessive Phenotype
DOCK8 Associated with Autosomal Recessive Phenotype
DOK7 Associated with Autosomal Recessive Phenotype
DPAGT1 Associated with Autosomal Recessive Phenotype
DPM1 Associated with Autosomal Recessive Phenotype
DPM3 Associated with Autosomal Recessive Phenotype No Evidence
DPYS Associated with Autosomal Recessive Phenotype
DRD5 No Evidence No Evidence
DSC2 Summary Available Some Evidence No Evidence
DSC3 Associated with Autosomal Recessive Phenotype
DSCR3 No Evidence No Evidence
DSE Associated with Autosomal Recessive Phenotype
DSG2 Summary Available Minimal Evidence No Evidence
DSG4 Associated with Autosomal Recessive Phenotype
DSP Summary Available Minimal Evidence No Evidence
DSPP No Evidence No Evidence
DYM Associated with Autosomal Recessive Phenotype
DYNC2H1 Associated with Autosomal Recessive Phenotype
DYRK1A Sufficient Evidence No Evidence
EARS2 Associated with Autosomal Recessive Phenotype
EBP Sufficient Evidence No Evidence
EDA Sufficient Evidence No Evidence
EDNRB Sufficient Evidence No Evidence
EFNB1 Sufficient Evidence Minimal Evidence
EFTUD2 Sufficient Evidence No Evidence
EGR2 Summary Available No Evidence No Evidence
EHMT1 Sufficient Evidence Minimal Evidence
EIF2AK3 Associated with Autosomal Recessive Phenotype
EIF2B1 Associated with Autosomal Recessive Phenotype
EIF2B3 Associated with Autosomal Recessive Phenotype
EIF4A3 Associated with Autosomal Recessive Phenotype
ELK1 No Evidence No Evidence
ELN Sufficient Evidence No Evidence
ELOA3 No Evidence No Evidence
EMX2 Some Evidence No Evidence
EN2 No Evidence No Evidence
ENG Summary Available Sufficient Evidence No Evidence
ENO3 Associated with Autosomal Recessive Phenotype
ENPP1 Associated with Autosomal Recessive Phenotype
EP300 Sufficient Evidence No Evidence
EPB42 Associated with Autosomal Recessive Phenotype
EPCAM Summary Available
EPM2A Associated with Autosomal Recessive Phenotype
ERCC1 Associated with Autosomal Recessive Phenotype
ERCC2 Associated with Autosomal Recessive Phenotype
ERCC5 Associated with Autosomal Recessive Phenotype
ERCC6L2 Associated with Autosomal Recessive Phenotype
ERCC8 Associated with Autosomal Recessive Phenotype
ERMARD Minimal Evidence No Evidence
ESCO2 Associated with Autosomal Recessive Phenotype
ETFB Associated with Autosomal Recessive Phenotype
ETFDH Associated with Autosomal Recessive Phenotype
EVC2 Associated with Autosomal Recessive Phenotype No Evidence
EVX2 No Evidence No Evidence
EXOSC3 Associated with Autosomal Recessive Phenotype
EXPH5 Associated with Autosomal Recessive Phenotype
EXT1 Sufficient Evidence No Evidence
EXT2 Sufficient Evidence No Evidence
EYA1 Sufficient Evidence No Evidence
EYA4 Sufficient Evidence No Evidence
EYS Associated with Autosomal Recessive Phenotype
F5 Summary Available
F7 Associated with Autosomal Recessive Phenotype
F8 Summary Available Sufficient Evidence No Evidence
F9 Summary Available Sufficient Evidence No Evidence
F10 Associated with Autosomal Recessive Phenotype
F13A1 Associated with Autosomal Recessive Phenotype
F13B Associated with Autosomal Recessive Phenotype
FA2H Associated with Autosomal Recessive Phenotype
FADD Associated with Autosomal Recessive Phenotype
FAM20C Associated with Autosomal Recessive Phenotype
FAM58A Some Evidence No Evidence
FAM134B Associated with Autosomal Recessive Phenotype
FAM161A Associated with Autosomal Recessive Phenotype
FAN1 Associated with Autosomal Recessive Phenotype
FANCA Associated with Autosomal Recessive Phenotype
FANCB Sufficient Evidence No Evidence
FANCC Associated with Autosomal Recessive Phenotype
FANCD2 Associated with Autosomal Recessive Phenotype
FANCF Associated with Autosomal Recessive Phenotype
FANCI Associated with Autosomal Recessive Phenotype
FARS2 Associated with Autosomal Recessive Phenotype
FAS Sufficient Evidence No Evidence
FASLG Associated with Autosomal Recessive Phenotype No Evidence
FBN1 Summary Available Sufficient Evidence No Evidence
FBP1 Associated with Autosomal Recessive Phenotype
FBXO7 Associated with Autosomal Recessive Phenotype
FBXW4 No Evidence No Evidence
FBXW11 No Evidence Minimal Evidence
FGD1 Sufficient Evidence No Evidence
FGD4 Associated with Autosomal Recessive Phenotype
FGF3 Associated with Autosomal Recessive Phenotype
FGF10 Sufficient Evidence No Evidence
FGFR1 Sufficient Evidence No Evidence
FGFR3 Definitive No Evidence No Evidence
FGFRL1 No Evidence No Evidence
FH Summary Available
FKBP14 Associated with Autosomal Recessive Phenotype
FLCN Summary Available Sufficient Evidence No Evidence
FLG Sufficient Evidence No Evidence
FLNA Sufficient Evidence No Evidence
FLNB No Evidence No Evidence
FLVCR2 Associated with Autosomal Recessive Phenotype
FMR1 Sufficient Evidence No Evidence
FOXC1 Sufficient Evidence No Evidence
FOXC2 Sufficient Evidence No Evidence
FOXE1 Associated with Autosomal Recessive Phenotype
FOXF1 Sufficient Evidence No Evidence
FOXG1 Sufficient Evidence No Evidence
FOXL2 Sufficient Evidence No Evidence
FOXP1 Sufficient Evidence No Evidence
FOXP2 Minimal Evidence No Evidence
FOXRED1 Associated with Autosomal Recessive Phenotype
FREM1 No Evidence No Evidence
FRMD7 Sufficient Evidence No Evidence
FSHB Associated with Autosomal Recessive Phenotype
FTCD Associated with Autosomal Recessive Phenotype
FTL No Evidence No Evidence
FTSJ1 Sufficient Evidence No Evidence
FXN Associated with Autosomal Recessive Phenotype
FYCO1 Associated with Autosomal Recessive Phenotype No Evidence
FZD4 Sufficient Evidence No Evidence
GAA Summary Available Associated with Autosomal Recessive Phenotype
GABRB3 No Evidence No Evidence
GALC Associated with Autosomal Recessive Phenotype
GALK1 Associated with Autosomal Recessive Phenotype
GALNS Associated with Autosomal Recessive Phenotype
GALNT3 Associated with Autosomal Recessive Phenotype
GALR1 No Evidence No Evidence
GALT Associated with Autosomal Recessive Phenotype
GAMT Associated with Autosomal Recessive Phenotype
GAN Associated with Autosomal Recessive Phenotype
GATA2 Sufficient Evidence No Evidence
GATA3 Sufficient Evidence No Evidence
GATA4 Sufficient Evidence No Evidence
GATA6 Sufficient Evidence No Evidence
GATAD1 Associated with Autosomal Recessive Phenotype
GBA Summary Available Associated with Autosomal Recessive Phenotype No Evidence
GBA2 Associated with Autosomal Recessive Phenotype
GBE1 Associated with Autosomal Recessive Phenotype
GCDH Associated with Autosomal Recessive Phenotype
GCH1 Sufficient Evidence No Evidence
GCSH Associated with Autosomal Recessive Phenotype
GDF2 Summary Available No Evidence No Evidence
GDF5 Sufficient Evidence No Evidence
GDI1 Minimal Evidence No Evidence
GFER Associated with Autosomal Recessive Phenotype
GFM1 Associated with Autosomal Recessive Phenotype
GIPC3 Associated with Autosomal Recessive Phenotype
GJA1 No Evidence No Evidence
GJA5 Minimal Evidence No Evidence
GJA8 Minimal Evidence No Evidence
GJB2 No Evidence
GJB6 No Evidence No Evidence
GK Sufficient Evidence No Evidence
GLA Summary Available Sufficient Evidence No Evidence
GLB1 Associated with Autosomal Recessive Phenotype No Evidence
GLDC Associated with Autosomal Recessive Phenotype No Evidence
GLI2 Sufficient Evidence No Evidence
GLI3 Sufficient Evidence No Evidence
GLIS3 Associated with Autosomal Recessive Phenotype
GLMN Sufficient Evidence No Evidence
GLRB Associated with Autosomal Recessive Phenotype
GLUL Associated with Autosomal Recessive Phenotype No Evidence
GMPPA Associated with Autosomal Recessive Phenotype
GNAI3 No Evidence No Evidence
GNAS Sufficient Evidence No Evidence
GNPAT Associated with Autosomal Recessive Phenotype
GNRH1 Associated with Autosomal Recessive Phenotype
GNS Associated with Autosomal Recessive Phenotype
GORAB Associated with Autosomal Recessive Phenotype
GP1BB Associated with Autosomal Recessive Phenotype
GP6 Associated with Autosomal Recessive Phenotype
GPC3 Sufficient Evidence No Evidence
GPC5 No Evidence No Evidence
GPC6 Associated with Autosomal Recessive Phenotype No Evidence
GPD1 Associated with Autosomal Recessive Phenotype
GPHN Some Evidence No Evidence
GPIHBP1 Associated with Autosomal Recessive Phenotype
GPR179 Associated with Autosomal Recessive Phenotype
GPSM2 Associated with Autosomal Recessive Phenotype
GPX4 Associated with Autosomal Recessive Phenotype
GRB10 No Evidence No Evidence
GRHPR Associated with Autosomal Recessive Phenotype
GRIA3 Sufficient Evidence No Evidence
GRID1 No Evidence No Evidence
GRIK2 Associated with Autosomal Recessive Phenotype
GRIN2A Minimal Evidence No Evidence
GRIN2B Sufficient Evidence No Evidence
GRIP1 Associated with Autosomal Recessive Phenotype No Evidence
GRM1 Associated with Autosomal Recessive Phenotype
GRM6 Associated with Autosomal Recessive Phenotype
GTF2H5 Associated with Autosomal Recessive Phenotype
GTF2I No Evidence No Evidence
GTF2IRD1 No Evidence No Evidence
GTF2IRD2 No Evidence No Evidence
GUCY2C No Evidence No Evidence
GUSB Associated with Autosomal Recessive Phenotype No Evidence
GYS2 Associated with Autosomal Recessive Phenotype
H6PD Associated with Autosomal Recessive Phenotype
HBA1 Associated with Autosomal Recessive Phenotype No Evidence
HBA2 Associated with Autosomal Recessive Phenotype
HCCS Sufficient Evidence No Evidence
HDAC4 Minimal Evidence No Evidence
HEXB Associated with Autosomal Recessive Phenotype
HFE Summary Available Associated with Autosomal Recessive Phenotype No Evidence
HFE2 Associated with Autosomal Recessive Phenotype
HFM1 Associated with Autosomal Recessive Phenotype
HGF Associated with Autosomal Recessive Phenotype
HGSNAT Associated with Autosomal Recessive Phenotype
HIRA No Evidence No Evidence
HLCS Associated with Autosomal Recessive Phenotype
HMBS Summary Available
HMGA2 Some Evidence No Evidence
HNF1A Summary Available
HNF1B Sufficient Evidence No Evidence
HNRNPK Moderate Sufficient Evidence No Evidence
HNRNPU Some Evidence No Evidence
HOXD9 No Evidence No Evidence
HOXD13 Sufficient Evidence No Evidence
HPGD Associated with Autosomal Recessive Phenotype
HPRT1 Sufficient Evidence No Evidence
HPS1 Associated with Autosomal Recessive Phenotype
HPS3 Associated with Autosomal Recessive Phenotype
HPSE2 Associated with Autosomal Recessive Phenotype No Evidence
HRAS No Evidence No Evidence
HSD3B7 Associated with Autosomal Recessive Phenotype
HSD17B3 Associated with Autosomal Recessive Phenotype
HSD17B10 No Evidence No Evidence
HSPG2 Associated with Autosomal Recessive Phenotype No Evidence
HYLS1 Associated with Autosomal Recessive Phenotype
IDS Sufficient Evidence No Evidence
IDUA Associated with Autosomal Recessive Phenotype
IFT27 Associated with Autosomal Recessive Phenotype
IFT43 Associated with Autosomal Recessive Phenotype
IFT140 Associated with Autosomal Recessive Phenotype
IGF1R Sufficient Evidence No Evidence
IGF2 No Evidence No Evidence
IGF2R No Evidence No Evidence
IGHMBP2 Associated with Autosomal Recessive Phenotype
IGLL1 Associated with Autosomal Recessive Phenotype
IKBKG Sufficient Evidence No Evidence
IL1RAPL1 Sufficient Evidence No Evidence
IL2RA Associated with Autosomal Recessive Phenotype
IL10RA Associated with Autosomal Recessive Phenotype
IL17RA Associated with Autosomal Recessive Phenotype
IL21R Associated with Autosomal Recessive Phenotype
IMPA1 No Evidence No Evidence
IMPAD1 Associated with Autosomal Recessive Phenotype
INPP5E Associated with Autosomal Recessive Phenotype
INS No Evidence No Evidence
IRAK4 Associated with Autosomal Recessive Phenotype
IRF6 Sufficient Evidence No Evidence
ISPD Associated with Autosomal Recessive Phenotype
ITCH Associated with Autosomal Recessive Phenotype
ITGA3 Associated with Autosomal Recessive Phenotype
ITGB2 Associated with Autosomal Recessive Phenotype
ITGB3 No Evidence No Evidence
ITK Associated with Autosomal Recessive Phenotype
IYD Associated with Autosomal Recessive Phenotype
JAG1 Sufficient Evidence No Evidence
JAM3 Associated with Autosomal Recessive Phenotype No Evidence
JARID2 No Evidence No Evidence
KANK1 No Evidence No Evidence
KANSL1 Sufficient Evidence No Evidence
KARS Associated with Autosomal Recessive Phenotype
KAT6B Minimal Evidence No Evidence
KCNH2 Summary Available Sufficient Evidence No Evidence
KCNJ1 Associated with Autosomal Recessive Phenotype No Evidence
KCNK9 No Evidence No Evidence
KCNQ1 Summary Available Sufficient Evidence No Evidence
KCNQ2 Sufficient Evidence No Evidence
KCNV2 Associated with Autosomal Recessive Phenotype
KCTD7 Associated with Autosomal Recessive Phenotype
KDM5C Sufficient Evidence No Evidence
KDM6A Sufficient Evidence No Evidence
KERA Associated with Autosomal Recessive Phenotype
KHDC3L Associated with Autosomal Recessive Phenotype
KIAA2022 Minimal Evidence No Evidence
KIF1A No Evidence No Evidence
KIF1BP Associated with Autosomal Recessive Phenotype
KIF1C Associated with Autosomal Recessive Phenotype
KIF7 Associated with Autosomal Recessive Phenotype
KIF11 Sufficient Evidence No Evidence
KISS1 Associated with Autosomal Recessive Phenotype
KLF8 No Evidence No Evidence
KLF14 No Evidence No Evidence
KMT2A Some Evidence No Evidence
KMT2D Sufficient Evidence No Evidence
KRAS No Evidence No Evidence
L1CAM Sufficient Evidence No Evidence
L3MBTL1 No Evidence No Evidence
LAMA1 Associated with Autosomal Recessive Phenotype
LAMA3 Associated with Autosomal Recessive Phenotype
LAMB1 Moderate
LAMC2 Associated with Autosomal Recessive Phenotype
LAMP2 Sufficient Evidence No Evidence
LARGE1 Associated with Autosomal Recessive Phenotype
LBR Moderate Associated with Autosomal Recessive Phenotype No Evidence
LBX1 No Evidence No Evidence
LCA5 Associated with Autosomal Recessive Phenotype
LCT Associated with Autosomal Recessive Phenotype
LDLR Summary Available Sufficient Evidence No Evidence
LEMD3 Sufficient Evidence No Evidence
LEPR Associated with Autosomal Recessive Phenotype
LETM1 No Evidence No Evidence
LFNG Associated with Autosomal Recessive Phenotype
LHX3 Associated with Autosomal Recessive Phenotype
LHX4 Sufficient Evidence No Evidence
LIG4 Associated with Autosomal Recessive Phenotype
LIMK1 No Evidence No Evidence
LINS1 Associated with Autosomal Recessive Phenotype
LIPA Associated with Autosomal Recessive Phenotype
LITAF Summary Available No Evidence No Evidence
LMAN1 Associated with Autosomal Recessive Phenotype
LMBR1 Associated with Autosomal Recessive Phenotype No Evidence
LMNA Summary Available Some Evidence No Evidence
LMNB1 No Evidence Sufficient Evidence
LMX1B Sufficient Evidence No Evidence
LOXHD1 Associated with Autosomal Recessive Phenotype
LPAR6 Associated with Autosomal Recessive Phenotype
LPIN2 Associated with Autosomal Recessive Phenotype
LRAT Associated with Autosomal Recessive Phenotype
LRBA Associated with Autosomal Recessive Phenotype
LRP2 Associated with Autosomal Recessive Phenotype No Evidence
LRP5 Some Evidence No Evidence
LRPAP1 Associated with Autosomal Recessive Phenotype
LRPPRC Associated with Autosomal Recessive Phenotype
LRRC6 Associated with Autosomal Recessive Phenotype
LRTOMT Definitive
LSS No Evidence No Evidence
LYRM7 Associated with Autosomal Recessive Phenotype
LYST Associated with Autosomal Recessive Phenotype
MAFB No Evidence No Evidence
MAGEL2 Some Evidence No Evidence
MAGT1 Some Evidence No Evidence
MALT1 Associated with Autosomal Recessive Phenotype
MAN2B1 Associated with Autosomal Recessive Phenotype
MAOA Minimal Evidence No Evidence
MAP2K1 No Evidence No Evidence
MAP2K2 Minimal Evidence No Evidence
MAP3K1 No Evidence No Evidence
MAPT No Evidence No Evidence
MARVELD2 Associated with Autosomal Recessive Phenotype
MASP2 Associated with Autosomal Recessive Phenotype
MATN3 No Evidence No Evidence
MBD5 Sufficient Evidence Minimal Evidence
MC2R Associated with Autosomal Recessive Phenotype
MCCC1 Associated with Autosomal Recessive Phenotype
MCEE Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MCFD2 Associated with Autosomal Recessive Phenotype
MCPH1 Associated with Autosomal Recessive Phenotype
MECP2 Sufficient Evidence Sufficient Evidence
MED12 No Evidence No Evidence
MED13L Sufficient Evidence Minimal Evidence
MEF2C Sufficient Evidence Minimal Evidence
MEFV Summary Available
MEIS2 Some Evidence No Evidence
MEN1 Summary Available Sufficient Evidence No Evidence
MEST No Evidence No Evidence
MET Summary Available No Evidence No Evidence
METTL23 Associated with Autosomal Recessive Phenotype
MFHAS1 No Evidence No Evidence
MFN2 No Evidence No Evidence
MFRP Associated with Autosomal Recessive Phenotype
MFSD8 Associated with Autosomal Recessive Phenotype
MID1 Sufficient Evidence No Evidence
MID2 No Evidence No Evidence
MITF Sufficient Evidence No Evidence
MKKS Associated with Autosomal Recessive Phenotype
MKRN3 No Evidence No Evidence
MKS1 Associated with Autosomal Recessive Phenotype
MLC1 Associated with Autosomal Recessive Phenotype
MLH1 Summary Available Sufficient Evidence No Evidence
MLPH Associated with Autosomal Recessive Phenotype
MLYCD Associated with Autosomal Recessive Phenotype
MMAA Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MMAB Summary Available
MMACHC Associated with Autosomal Recessive Phenotype
MMADHC Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MNX1 Sufficient Evidence No Evidence
MOCS2 Associated with Autosomal Recessive Phenotype
MPDZ Associated with Autosomal Recessive Phenotype
MPLKIP Associated with Autosomal Recessive Phenotype
MPZ Summary Available
MSH2 Summary Available Sufficient Evidence No Evidence
MSH6 Summary Available Sufficient Evidence No Evidence
MSX2 Sufficient Evidence No Evidence
MTAP Minimal Evidence No Evidence
MTFMT Associated with Autosomal Recessive Phenotype
MTHFR Associated with Autosomal Recessive Phenotype
MTM1 Sufficient Evidence No Evidence
MTMR2 Associated with Autosomal Recessive Phenotype
MTO1 Associated with Autosomal Recessive Phenotype
MTR Associated with Autosomal Recessive Phenotype
MTRR Associated with Autosomal Recessive Phenotype
MTTP Associated with Autosomal Recessive Phenotype
MUT Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MUTYH Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MYBPC3 Summary Available Sufficient Evidence No Evidence
MYCN Sufficient Evidence No Evidence
MYH7 Summary Available No Evidence No Evidence
MYH11 Summary Available No Evidence No Evidence
MYL2 Summary Available Associated with Autosomal Recessive Phenotype No Evidence
MYL3 Summary Available No Evidence No Evidence
MYLK Summary Available Minimal Evidence No Evidence
MYO1E Associated with Autosomal Recessive Phenotype
MYO5A Associated with Autosomal Recessive Phenotype
MYO5B Associated with Autosomal Recessive Phenotype No Evidence
MYO9A Limited
MYO15A Associated with Autosomal Recessive Phenotype
MYT1L Sufficient Evidence No Evidence
NAALADL2 No Evidence No Evidence
NAT8L Associated with Autosomal Recessive Phenotype
NBAS Associated with Autosomal Recessive Phenotype
NCF1 Associated with Autosomal Recessive Phenotype No Evidence
NCF2 Associated with Autosomal Recessive Phenotype
NCF4 Associated with Autosomal Recessive Phenotype
NDE1 Associated with Autosomal Recessive Phenotype No Evidence
NDN No Evidence No Evidence
NDP Sufficient Evidence No Evidence
NDRG1 Associated with Autosomal Recessive Phenotype
NDUFA1 No Evidence No Evidence
NDUFA10 Associated with Autosomal Recessive Phenotype
NDUFAF1 Associated with Autosomal Recessive Phenotype
NDUFAF2 Associated with Autosomal Recessive Phenotype
NDUFAF5 Associated with Autosomal Recessive Phenotype
NDUFB3 Associated with Autosomal Recessive Phenotype
NDUFS4 Associated with Autosomal Recessive Phenotype
NDUFS6 Associated with Autosomal Recessive Phenotype
NDUFS7 Associated with Autosomal Recessive Phenotype
NDUFS8 Associated with Autosomal Recessive Phenotype
NDUFV1 Associated with Autosomal Recessive Phenotype No Evidence
NDUFV2 Associated with Autosomal Recessive Phenotype
NEBL No Evidence No Evidence
NEFL Summary Available
NEK1 Associated with Autosomal Recessive Phenotype No Evidence
NELFA No Evidence No Evidence
NF1 Sufficient Evidence No Evidence
NF2 Summary Available Sufficient Evidence No Evidence
NFIA Sufficient Evidence No Evidence
NFIX Minimal Evidence No Evidence
NGLY1 Definitive Associated with Autosomal Recessive Phenotype No Evidence
NHP2 Limited Associated with Autosomal Recessive Phenotype No Evidence
NHS Sufficient Evidence No Evidence
NIPA1 No Evidence No Evidence
NIPA2 No Evidence No Evidence
NIPBL Sufficient Evidence Minimal Evidence
NKX2-5 Sufficient Evidence No Evidence
NKX3-2 Associated with Autosomal Recessive Phenotype
NLGN1 No Evidence No Evidence
NLGN3 No Evidence No Evidence
NNAT No Evidence No Evidence
NODAL Minimal Evidence No Evidence
NOG Sufficient Evidence No Evidence
NOTCH2 No Evidence No Evidence
NOTCH3 Summary Available
NPC1 Associated with Autosomal Recessive Phenotype
NPHP1 Associated with Autosomal Recessive Phenotype No Evidence
NPHP4 Associated with Autosomal Recessive Phenotype
NPHS1 Associated with Autosomal Recessive Phenotype
NPTX2 No Evidence No Evidence
NR2F1 No Evidence No Evidence
NR2F2 No Evidence No Evidence
NR5A1 Sufficient Evidence No Evidence
NR0B1 Sufficient Evidence No Evidence
NRG3 No Evidence No Evidence
NRXN1 Sufficient Evidence No Evidence
NSD1 Sufficient Evidence Minimal Evidence
NSD2 No Evidence No Evidence
NSDHL Sufficient Evidence No Evidence
NXF5 Minimal Evidence No Evidence
NYX Sufficient Evidence No Evidence
OAT Associated with Autosomal Recessive Phenotype
OBSL1 Associated with Autosomal Recessive Phenotype
OCA2 Associated with Autosomal Recessive Phenotype No Evidence
OCLN Associated with Autosomal Recessive Phenotype
OCRL Sufficient Evidence No Evidence
OFD1 Sufficient Evidence No Evidence
OPHN1 Sufficient Evidence No Evidence
OR5AU1 No Evidence No Evidence
ORC4 Associated with Autosomal Recessive Phenotype No Evidence
ORC6 Associated with Autosomal Recessive Phenotype
OSBPL5 No Evidence No Evidence
OSTM1 Associated with Autosomal Recessive Phenotype
OTC Summary Available Sufficient Evidence No Evidence
OTOA Associated with Autosomal Recessive Phenotype
OTOF Definitive Associated with Autosomal Recessive Phenotype
OTOGL Associated with Autosomal Recessive Phenotype
OTX2 Sufficient Evidence No Evidence
OXCT1 Associated with Autosomal Recessive Phenotype
P3H1 Associated with Autosomal Recessive Phenotype No Evidence
PAFAH1B1 Sufficient Evidence No Evidence
PAH Summary Available Associated with Autosomal Recessive Phenotype
PAK2 Minimal Evidence Minimal Evidence
PAK3 Some Evidence No Evidence
PALB2 Definitive Summary Available
PARK7 Associated with Autosomal Recessive Phenotype
PAX1 Associated with Autosomal Recessive Phenotype
PAX2 Sufficient Evidence No Evidence
PAX3 Sufficient Evidence No Evidence
PAX6 Sufficient Evidence Minimal Evidence
PAX8 Some Evidence No Evidence
PAX9 Sufficient Evidence No Evidence
PC Associated with Autosomal Recessive Phenotype
PCCA Associated with Autosomal Recessive Phenotype
PCDH9 No Evidence No Evidence
PCDH15 Definitive Associated with Autosomal Recessive Phenotype
PCDH19 Sufficient Evidence No Evidence
PCSK9 Summary Available No Evidence
PCYT1A Associated with Autosomal Recessive Phenotype
PDE4D No Evidence No Evidence
PDE6C Associated with Autosomal Recessive Phenotype
PDHA1 Sufficient Evidence No Evidence
PDHX Associated with Autosomal Recessive Phenotype
PDP1 Associated with Autosomal Recessive Phenotype
PDSS2 Associated with Autosomal Recessive Phenotype
PDX1 Associated with Autosomal Recessive Phenotype
PEG3 No Evidence No Evidence
PEG10 No Evidence No Evidence
PEPD Associated with Autosomal Recessive Phenotype
PEX1 Associated with Autosomal Recessive Phenotype
PEX3 Associated with Autosomal Recessive Phenotype
PEX7 Associated with Autosomal Recessive Phenotype
PEX11B Associated with Autosomal Recessive Phenotype
PEX14 Associated with Autosomal Recessive Phenotype
PEX16 Associated with Autosomal Recessive Phenotype
PEX26 Associated with Autosomal Recessive Phenotype
PGAP3 Associated with Autosomal Recessive Phenotype
PGK1 Sufficient Evidence No Evidence
PGM1 Associated with Autosomal Recessive Phenotype
PGM3 Associated with Autosomal Recessive Phenotype
PHC1 Associated with Autosomal Recessive Phenotype
PHEX Sufficient Evidence No Evidence
PHF6 Sufficient Evidence No Evidence
PHF8 Sufficient Evidence No Evidence
PHF21A No Evidence No Evidence
PHKB Associated with Autosomal Recessive Phenotype
PHKG2 Associated with Autosomal Recessive Phenotype
PHLDA2 No Evidence No Evidence
PHYH Associated with Autosomal Recessive Phenotype
PIGA Some Evidence No Evidence
PIGN Associated with Autosomal Recessive Phenotype
PIGO Associated with Autosomal Recessive Phenotype
PIGW Associated with Autosomal Recessive Phenotype
PIK3CA No Evidence No Evidence
PIK3R2 No Evidence No Evidence
PINK1 Associated with Autosomal Recessive Phenotype
PIP5K1C Associated with Autosomal Recessive Phenotype
PITPNA No Evidence No Evidence
PITX2 Sufficient Evidence No Evidence
PITX3 No Evidence No Evidence
PKD1 Summary Available Sufficient Evidence No Evidence
PKD2 Summary Available Sufficient Evidence No Evidence
PKP2 Summary Available Sufficient Evidence No Evidence
PLA2G6 Associated with Autosomal Recessive Phenotype
PLAGL1 No Evidence No Evidence
PLCB1 Associated with Autosomal Recessive Phenotype
PLEKHG5 Associated with Autosomal Recessive Phenotype
PLOD1 Associated with Autosomal Recessive Phenotype
PLOD2 Associated with Autosomal Recessive Phenotype
PLOD3 Associated with Autosomal Recessive Phenotype
PLP1 Sufficient Evidence Sufficient Evidence
PMM2 Associated with Autosomal Recessive Phenotype
PMP22 Summary Available Sufficient Evidence No Evidence
PMS2 Summary Available Sufficient Evidence No Evidence
PNP Associated with Autosomal Recessive Phenotype
POLH Associated with Autosomal Recessive Phenotype
POLL No Evidence No Evidence
POLR1D Some Evidence No Evidence
POMP Associated with Autosomal Recessive Phenotype
POMT2 Associated with Autosomal Recessive Phenotype
POR Associated with Autosomal Recessive Phenotype
PORCN Sufficient Evidence No Evidence
PPIB Associated with Autosomal Recessive Phenotype
PPIP5K1 No Evidence No Evidence
PPP1R9A No Evidence No Evidence
PPT1 Associated with Autosomal Recessive Phenotype
PQBP1 Sufficient Evidence No Evidence
PRCD Associated with Autosomal Recessive Phenotype
PREPL Associated with Autosomal Recessive Phenotype No Evidence
PRG4 Associated with Autosomal Recessive Phenotype
PRKAG2 Summary Available No Evidence No Evidence
PROP1 Associated with Autosomal Recessive Phenotype
PRPS1 Sufficient Evidence No Evidence
PRRT2 Sufficient Evidence No Evidence
PRSS1 No Evidence No Evidence
PSAT1 Associated with Autosomal Recessive Phenotype
PSD3 Limited No Evidence No Evidence
PSPH Associated with Autosomal Recessive Phenotype
PTCH1 Summary Available Sufficient Evidence Minimal Evidence
PTEN Summary Available Sufficient Evidence No Evidence
PTHLH Minimal Evidence No Evidence
PTPN11 Sufficient Evidence No Evidence
PTPRQ Associated with Autosomal Recessive Phenotype
PTS Associated with Autosomal Recessive Phenotype
PXDN Associated with Autosomal Recessive Phenotype
PYCR1 Associated with Autosomal Recessive Phenotype
QDPR Associated with Autosomal Recessive Phenotype
RAB3GAP1 Associated with Autosomal Recessive Phenotype
RAB3GAP2 Associated with Autosomal Recessive Phenotype
RAB27A Associated with Autosomal Recessive Phenotype
RAB28 Associated with Autosomal Recessive Phenotype
RAB39B Sufficient Evidence No Evidence
RAD21 No Evidence No Evidence
RAD51C Moderate
RAD51D Limited
RAF1 No Evidence
RAG1 Associated with Autosomal Recessive Phenotype
RAG2 Associated with Autosomal Recessive Phenotype
RAI1 Sufficient Evidence No Evidence
RARS2 Associated with Autosomal Recessive Phenotype No Evidence
RASA1 Sufficient Evidence No Evidence
RAX Associated with Autosomal Recessive Phenotype
RB1 Sufficient Evidence No Evidence
RBBP8 Associated with Autosomal Recessive Phenotype
RBFOX1 Minimal Evidence No Evidence
RBP3 Associated with Autosomal Recessive Phenotype
RCAN1 No Evidence No Evidence
RDX Associated with Autosomal Recessive Phenotype
RELN Associated with Autosomal Recessive Phenotype No Evidence
RET Summary Available Sufficient Evidence No Evidence
RFX6 Associated with Autosomal Recessive Phenotype No Evidence
RIN2 Associated with Autosomal Recessive Phenotype
RIPK4 Associated with Autosomal Recessive Phenotype
RIPOR2 Strong
RMND1 Associated with Autosomal Recessive Phenotype
RNASEH2A Associated with Autosomal Recessive Phenotype
RNF135 Some Evidence No Evidence
RNF168 Associated with Autosomal Recessive Phenotype
RNF216 Associated with Autosomal Recessive Phenotype
ROBO3 Associated with Autosomal Recessive Phenotype
ROGDI Associated with Autosomal Recessive Phenotype No Evidence
ROR2 No Evidence No Evidence
RP2 Sufficient Evidence No Evidence
RPGRIP1 Associated with Autosomal Recessive Phenotype
RPL10 No Evidence No Evidence
RPL15 Minimal Evidence No Evidence
RPS6KA3 Sufficient Evidence No Evidence
RPS10 Definitive
RPS17 Sufficient Evidence No Evidence
RPS19 Sufficient Evidence No Evidence
RPS24 Definitive Sufficient Evidence No Evidence
RPS26 Sufficient Evidence No Evidence
RS1 Sufficient Evidence No Evidence
RSPH1 Associated with Autosomal Recessive Phenotype
RSPH4A Associated with Autosomal Recessive Phenotype
RSPO4 Associated with Autosomal Recessive Phenotype
RTTN Associated with Autosomal Recessive Phenotype
RUNX1 Sufficient Evidence No Evidence
RXFP2 No Evidence No Evidence
RYR1 Summary Available No Evidence No Evidence
RYR2 Summary Available No Evidence No Evidence
SACS Associated with Autosomal Recessive Phenotype
SALL1 Sufficient Evidence No Evidence
SALL4 Sufficient Evidence No Evidence
SAMD9 Associated with Autosomal Recessive Phenotype
SATB2 Sufficient Evidence No Evidence
SBF2 Associated with Autosomal Recessive Phenotype
SCARB2 No Evidence No Evidence
SCARF2 Associated with Autosomal Recessive Phenotype
SCN1A Sufficient Evidence No Evidence
SCN2A Sufficient Evidence No Evidence
SCN4B Limited
SCN5A Summary Available Some Evidence No Evidence
SCN8A No Evidence No Evidence
SDCCAG8 Associated with Autosomal Recessive Phenotype
SDHAF1 Associated with Autosomal Recessive Phenotype
SDHAF2 Summary Available Some Evidence No Evidence
SDHB Summary Available Sufficient Evidence No Evidence
SDHC Summary Available Sufficient Evidence No Evidence
SDHD Summary Available Sufficient Evidence No Evidence
SEC23B Associated with Autosomal Recessive Phenotype
SEM1 No Evidence No Evidence
SEPSECS Associated with Autosomal Recessive Phenotype
SERAC1 Associated with Autosomal Recessive Phenotype
SERPINA1 Summary Available
SERPINB6 Associated with Autosomal Recessive Phenotype
SERPINB7 Associated with Autosomal Recessive Phenotype No Evidence
SERPINE1 Associated with Autosomal Recessive Phenotype
SERPINF1 Associated with Autosomal Recessive Phenotype
SETBP1 Some Evidence No Evidence
SETD5 Sufficient Evidence No Evidence
SF3B4 Sufficient Evidence No Evidence
SGCE Sufficient Evidence No Evidence
SGCG Associated with Autosomal Recessive Phenotype
SGSH Associated with Autosomal Recessive Phenotype No Evidence
SH2B1 Some Evidence No Evidence
SH2D1A Sufficient Evidence No Evidence
SH3TC2 Associated with Autosomal Recessive Phenotype
SHH Sufficient Evidence Minimal Evidence
SHOX Sufficient Evidence No Evidence
SHROOM4 No Evidence No Evidence
SI Associated with Autosomal Recessive Phenotype
SIM1 Minimal Evidence No Evidence
SIX1 No Evidence No Evidence
SIX3 Sufficient Evidence No Evidence
SIX4 No Evidence No Evidence
SIX6 No Evidence No Evidence
SKI Definitive No Evidence No Evidence
SLC2A1 Sufficient Evidence No Evidence
SLC3A1 Associated with Autosomal Recessive Phenotype No Evidence
SLC4A10 Minimal Evidence No Evidence
SLC5A1 Associated with Autosomal Recessive Phenotype
SLC6A3 Associated with Autosomal Recessive Phenotype
SLC6A4 No Evidence No Evidence
SLC6A8 Sufficient Evidence No Evidence
SLC7A7 Associated with Autosomal Recessive Phenotype
SLC9A6 Sufficient Evidence No Evidence
SLC12A1 Associated with Autosomal Recessive Phenotype No Evidence
SLC12A3 Associated with Autosomal Recessive Phenotype
SLC13A5 Associated with Autosomal Recessive Phenotype
SLC16A2 Sufficient Evidence No Evidence
SLC16A12 Minimal Evidence No Evidence
SLC17A5 Associated with Autosomal Recessive Phenotype
SLC22A18 No Evidence No Evidence
SLC24A1 Associated with Autosomal Recessive Phenotype
SLC25A1 Associated with Autosomal Recessive Phenotype
SLC25A12 No Evidence No Evidence
SLC25A13 Associated with Autosomal Recessive Phenotype
SLC25A19 Associated with Autosomal Recessive Phenotype
SLC30A10 Associated with Autosomal Recessive Phenotype
SLC34A1 Associated with Autosomal Recessive Phenotype
SLC34A2 Associated with Autosomal Recessive Phenotype
SLC35C1 Associated with Autosomal Recessive Phenotype
SLC35D1 Associated with Autosomal Recessive Phenotype No Evidence
SLC37A4 Associated with Autosomal Recessive Phenotype
SLC38A5 No Evidence No Evidence
SLC38A8 Associated with Autosomal Recessive Phenotype
SLC52A3 Associated with Autosomal Recessive Phenotype
SMAD3 Definitive Summary Available Sufficient Evidence No Evidence
SMAD4 Summary Available Sufficient Evidence No Evidence
SMARCA1 Moderate
SMARCA2 No Evidence No Evidence
SMARCA4 Some Evidence No Evidence
SMARCB1 Sufficient Evidence No Evidence
SMC1A No Evidence No Evidence
SMOC1 Associated with Autosomal Recessive Phenotype
SMOC2 Associated with Autosomal Recessive Phenotype
SMS Sufficient Evidence No Evidence
SNAP29 Associated with Autosomal Recessive Phenotype
SNRPN No Evidence No Evidence
SNURF Minimal Evidence No Evidence
SOBP Associated with Autosomal Recessive Phenotype
SOS1 No Evidence No Evidence
SOS2 Moderate
SOST Associated with Autosomal Recessive Phenotype
SOX2 Sufficient Evidence No Evidence
SOX3 No Evidence Minimal Evidence
SOX5 Sufficient Evidence No Evidence
SOX6 No Evidence No Evidence
SOX8 No Evidence No Evidence
SOX9 Sufficient Evidence No Evidence
SOX10 Sufficient Evidence No Evidence
SOX11 Sufficient Evidence No Evidence
SPATA7 Associated with Autosomal Recessive Phenotype
SPEG Associated with Autosomal Recessive Phenotype
SPG7 Associated with Autosomal Recessive Phenotype
SPG21 Associated with Autosomal Recessive Phenotype
SPINK1 Some Evidence No Evidence
SPINK5 Associated with Autosomal Recessive Phenotype
SPRED1 Sufficient Evidence No Evidence
SRCAP No Evidence No Evidence
SRD5A2 Associated with Autosomal Recessive Phenotype No Evidence
SRPX2 No Evidence No Evidence
SRY Sufficient Evidence No Evidence
ST3GAL5 Associated with Autosomal Recessive Phenotype
ST14 Associated with Autosomal Recessive Phenotype
STAT1 No Evidence No Evidence
STIL Associated with Autosomal Recessive Phenotype
STK11 Summary Available Sufficient Evidence No Evidence
STRC Associated with Autosomal Recessive Phenotype
STS Sufficient Evidence No Evidence
STT3A Associated with Autosomal Recessive Phenotype
STUB1 Associated with Autosomal Recessive Phenotype
STX11 Associated with Autosomal Recessive Phenotype
STXBP1 Sufficient Evidence No Evidence
SUCLG1 Associated with Autosomal Recessive Phenotype
SUMF1 Associated with Autosomal Recessive Phenotype
SUPT16H No Evidence No Evidence
SURF1 Associated with Autosomal Recessive Phenotype
SUZ12 No Evidence No Evidence
SYN1 Some Evidence No Evidence
SYNE4 Associated with Autosomal Recessive Phenotype
SYNGAP1 Sufficient Evidence No Evidence
SYT14 Associated with Autosomal Recessive Phenotype
TAB2 Some Evidence No Evidence
TACSTD2 Associated with Autosomal Recessive Phenotype
TAF2 Associated with Autosomal Recessive Phenotype
TBC1D5 No Evidence No Evidence
TBC1D20 Associated with Autosomal Recessive Phenotype
TBCE Associated with Autosomal Recessive Phenotype No Evidence
TBX1 Some Evidence No Evidence
TBX3 Sufficient Evidence No Evidence
TBX4 Some Evidence No Evidence
TBX5 Sufficient Evidence No Evidence
TBX20 Minimal Evidence No Evidence
TBX22 Sufficient Evidence No Evidence
TCF4 Sufficient Evidence No Evidence
TCF12 Sufficient Evidence No Evidence
TCIRG1 Associated with Autosomal Recessive Phenotype
TCN2 Associated with Autosomal Recessive Phenotype
TCOF1 Sufficient Evidence No Evidence
TCTN1 Associated with Autosomal Recessive Phenotype No Evidence
TCTN2 Associated with Autosomal Recessive Phenotype
TDGF1 Minimal Evidence No Evidence
TDP1 Associated with Autosomal Recessive Phenotype
TECPR2 Associated with Autosomal Recessive Phenotype
TERT Minimal Evidence No Evidence
TFAP2B Sufficient Evidence No Evidence
TFR2 Associated with Autosomal Recessive Phenotype
TGFBR1 Summary Available Some Evidence No Evidence
TGFBR2 Summary Available Some Evidence No Evidence
TGIF1 Sufficient Evidence No Evidence
TGM1 Associated with Autosomal Recessive Phenotype
TGM5 Associated with Autosomal Recessive Phenotype
THRA No Evidence No Evidence
TIMM8A Sufficient Evidence No Evidence
TJP2 Associated with Autosomal Recessive Phenotype
TMC1 Definitive
TMC6 Associated with Autosomal Recessive Phenotype
TMC8 Associated with Autosomal Recessive Phenotype
TMCO1 Associated with Autosomal Recessive Phenotype
TMEM43 Summary Available No Evidence No Evidence
TMEM67 Associated with Autosomal Recessive Phenotype
TMEM135 No Evidence No Evidence
TMEM231 Associated with Autosomal Recessive Phenotype
TMEM237 Associated with Autosomal Recessive Phenotype No Evidence
TMLHE Minimal Evidence No Evidence
TMPO Refuted
TMPRSS3 Associated with Autosomal Recessive Phenotype
TMPRSS6 Associated with Autosomal Recessive Phenotype
TNFRSF11B Associated with Autosomal Recessive Phenotype
TNNI3 Summary Available Minimal Evidence No Evidence
TNNT1 Associated with Autosomal Recessive Phenotype
TNNT2 Summary Available No Evidence No Evidence
TP53 Summary Available Sufficient Evidence No Evidence
TP63 Minimal Evidence No Evidence
TP73 No Evidence No Evidence
TPK1 Associated with Autosomal Recessive Phenotype
TPM1 Summary Available No Evidence No Evidence
TPO Associated with Autosomal Recessive Phenotype
TPRN Associated with Autosomal Recessive Phenotype
TRAPPC2 Sufficient Evidence No Evidence
TRAPPC9 Associated with Autosomal Recessive Phenotype No Evidence
TRAPPC10 No Evidence No Evidence
TRDN Associated with Autosomal Recessive Phenotype
TRHR Associated with Autosomal Recessive Phenotype
TRIM2 Associated with Autosomal Recessive Phenotype
TRIM32 Associated with Autosomal Recessive Phenotype
TRIM37 Associated with Autosomal Recessive Phenotype
TRIOBP Associated with Autosomal Recessive Phenotype
TRMT10A Associated with Autosomal Recessive Phenotype
TRMU Associated with Autosomal Recessive Phenotype
TRPM1 Associated with Autosomal Recessive Phenotype
TRPS1 Sufficient Evidence No Evidence
TSC1 Summary Available Sufficient Evidence No Evidence
TSC2 Summary Available Sufficient Evidence No Evidence
TSEN2 Associated with Autosomal Recessive Phenotype
TSEN54 Associated with Autosomal Recessive Phenotype
TSPAN7 Some Evidence No Evidence
TSPEAR Associated with Autosomal Recessive Phenotype
TTC7A Associated with Autosomal Recessive Phenotype
TTC8 Associated with Autosomal Recessive Phenotype
TTC19 Associated with Autosomal Recessive Phenotype
TTC21B Associated with Autosomal Recessive Phenotype
TTC37 Associated with Autosomal Recessive Phenotype
TTLL5 Associated with Autosomal Recessive Phenotype
TUBA1A No Evidence No Evidence
TUBA8 Associated with Autosomal Recessive Phenotype
TUBB4A No Evidence No Evidence
TUBGCP6 Associated with Autosomal Recessive Phenotype
TUFM Associated with Autosomal Recessive Phenotype
TWIST1 Sufficient Evidence No Evidence
TWIST2 Associated with Autosomal Recessive Phenotype
TYMP Associated with Autosomal Recessive Phenotype
TYROBP Associated with Autosomal Recessive Phenotype
TYRP1 Associated with Autosomal Recessive Phenotype
UBE2A Minimal Evidence No Evidence
UBE3A Sufficient Evidence No Evidence
UBE3B Associated with Autosomal Recessive Phenotype
UBR1 Associated with Autosomal Recessive Phenotype
UPB1 Associated with Autosomal Recessive Phenotype
UPF3B Sufficient Evidence No Evidence
UROS Associated with Autosomal Recessive Phenotype
USH1C Definitive Associated with Autosomal Recessive Phenotype
USH1G Definitive Associated with Autosomal Recessive Phenotype
USH2A Definitive Associated with Autosomal Recessive Phenotype
UVSSA Associated with Autosomal Recessive Phenotype
VAMP7 No Evidence No Evidence
VCX3A No Evidence
VEGFA Minimal Evidence No Evidence
VHL Summary Available Sufficient Evidence Minimal Evidence
VLDLR Associated with Autosomal Recessive Phenotype
VPS8 Limited
VPS13A Associated with Autosomal Recessive Phenotype
VPS13B Associated with Autosomal Recessive Phenotype No Evidence
VPS37A Associated with Autosomal Recessive Phenotype
VPS53 Associated with Autosomal Recessive Phenotype
WDPCP Associated with Autosomal Recessive Phenotype
WDR35 Associated with Autosomal Recessive Phenotype No Evidence
WDR45 Sufficient Evidence No Evidence
WDR60 Associated with Autosomal Recessive Phenotype
WDR62 Associated with Autosomal Recessive Phenotype
WDR72 Associated with Autosomal Recessive Phenotype
WFS1 No Evidence No Evidence
WHRN Associated with Autosomal Recessive Phenotype
WISP3 Associated with Autosomal Recessive Phenotype
WNT7A Associated with Autosomal Recessive Phenotype
WRAP53 Moderate
WRN Associated with Autosomal Recessive Phenotype No Evidence
WT1 Sufficient Evidence No Evidence
XDH Associated with Autosomal Recessive Phenotype
XIAP Sufficient Evidence No Evidence
XPA Associated with Autosomal Recessive Phenotype
XPC Associated with Autosomal Recessive Phenotype
XPNPEP3 Associated with Autosomal Recessive Phenotype
XYLT1 Associated with Autosomal Recessive Phenotype
YAP1 Minimal Evidence No Evidence
YWHAE No Evidence No Evidence
ZBTB24 Associated with Autosomal Recessive Phenotype
ZC4H2 Minimal Evidence No Evidence
ZDHHC9 Some Evidence No Evidence
ZDHHC15 No Evidence No Evidence
ZEB2 Sufficient Evidence No Evidence
ZFPM2 Some Evidence No Evidence
ZFYVE26 Associated with Autosomal Recessive Phenotype
ZIC1 Some Evidence No Evidence
ZIC2 Sufficient Evidence No Evidence
ZIC3 Sufficient Evidence No Evidence
ZIC4 Some Evidence No Evidence
ZIM2 No Evidence No Evidence
ZMYM3 No Evidence No Evidence
ZMYND15 Associated with Autosomal Recessive Phenotype
ZNF41 Minimal Evidence No Evidence
ZNF81 No Evidence No Evidence
ZNF141 Associated with Autosomal Recessive Phenotype
ZNF264 No Evidence No Evidence
ZNF407 No Evidence No Evidence
ZNF592 Associated with Autosomal Recessive Phenotype
ZNF674 Minimal Evidence No Evidence
ZNF711 Some Evidence No Evidence