ClinGen Curated Genes & Diseases

Gene-Disease Clinical Validity Classifications
Actionability Evidence-Based Summaries
Dosage Sensitivity Map - Haploinsufficiency
Dosage Sensitivity Map - Triplosensitivity
A4GALT Gene associated with autosomal recessive phenotype No evidence available
AAGAB Sufficient evidence for dosage pathogenicity No evidence available
AARS2 Gene associated with autosomal recessive phenotype Not yet evaluated
AASS Gene associated with autosomal recessive phenotype Not yet evaluated
ABAT Gene associated with autosomal recessive phenotype Not yet evaluated
ABCC8 Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
ABCD1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
ABCG5 Gene associated with autosomal recessive phenotype Not yet evaluated
ABCG8 Gene associated with autosomal recessive phenotype Not yet evaluated
ABHD12 Gene associated with autosomal recessive phenotype No evidence available
ABR No evidence available No evidence available
ACAD8 Gene associated with autosomal recessive phenotype No evidence available
ACADM Gene associated with autosomal recessive phenotype Not yet evaluated
ACADSB Gene associated with autosomal recessive phenotype Not yet evaluated
ACADVL Gene associated with autosomal recessive phenotype Not yet evaluated
ACOX1 Gene associated with autosomal recessive phenotype No evidence available
ACP5 Gene associated with autosomal recessive phenotype Not yet evaluated
ACSF3 Gene associated with autosomal recessive phenotype Not yet evaluated
ACSL4 Sufficient evidence for dosage pathogenicity No evidence available
ACTA2 Summary Available No evidence available No evidence available
ACTB No evidence available No evidence available
ACTC1 Summary Available Little evidence for dosage pathogenicity No evidence available
ACVRL1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
ADAM9 Gene associated with autosomal recessive phenotype No evidence available
ADAMTS13 Gene associated with autosomal recessive phenotype Not yet evaluated
ADAMTS17 Gene associated with autosomal recessive phenotype Not yet evaluated
ADAMTS18 Gene associated with autosomal recessive phenotype Not yet evaluated
ADAMTS2 Gene associated with autosomal recessive phenotype Not yet evaluated
ADAMTSL2 Gene associated with autosomal recessive phenotype Not yet evaluated
ADGRV1 Definitive
ADSL Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
AFF2 Sufficient evidence for dosage pathogenicity No evidence available
AGA Gene associated with autosomal recessive phenotype Not yet evaluated
AGK Gene associated with autosomal recessive phenotype No evidence available
AGPAT2 Gene associated with autosomal recessive phenotype Not yet evaluated
AGRN Gene associated with autosomal recessive phenotype Not yet evaluated
AGT Gene associated with autosomal recessive phenotype No evidence available
AGTR2 Contradictory (disputed) Contradictory (refuted) No evidence available No evidence available
AGXT Gene associated with autosomal recessive phenotype Not yet evaluated
AHCY Gene associated with autosomal recessive phenotype No evidence available
AHI1 Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
AICDA Gene associated with autosomal recessive phenotype Not yet evaluated
AIMP1 Gene associated with autosomal recessive phenotype Not yet evaluated
AKAP9 Limited
AKT2 No evidence available No evidence available
AKT3 Little evidence for dosage pathogenicity No evidence available
ALAD Gene associated with autosomal recessive phenotype Not yet evaluated
ALDH1A3 Gene associated with autosomal recessive phenotype Not yet evaluated
ALDH3A2 Gene associated with autosomal recessive phenotype Not yet evaluated
ALDH4A1 Gene associated with autosomal recessive phenotype No evidence available
ALDH5A1 Gene associated with autosomal recessive phenotype Not yet evaluated
ALDOA Gene associated with autosomal recessive phenotype Not yet evaluated
ALG1 Gene associated with autosomal recessive phenotype Not yet evaluated
ALG12 Gene associated with autosomal recessive phenotype Not yet evaluated
ALG2 Gene associated with autosomal recessive phenotype Not yet evaluated
ALG6 Gene associated with autosomal recessive phenotype Not yet evaluated
ALMS1 Definitive Gene associated with autosomal recessive phenotype Not yet evaluated
ALS2 Gene associated with autosomal recessive phenotype Not yet evaluated
ALX4 Sufficient evidence for dosage pathogenicity No evidence available
AMH Gene associated with autosomal recessive phenotype Not yet evaluated
AMN Gene associated with autosomal recessive phenotype Not yet evaluated
ANGPTL3 Gene associated with autosomal recessive phenotype Not yet evaluated
ANKRD11 Sufficient evidence for dosage pathogenicity No evidence available
ANKS6 Gene associated with autosomal recessive phenotype Not yet evaluated
ANTXR2 Gene associated with autosomal recessive phenotype Not yet evaluated
AP1S2 Sufficient evidence for dosage pathogenicity No evidence available
AP4B1 Gene associated with autosomal recessive phenotype Not yet evaluated
AP4S1 Gene associated with autosomal recessive phenotype Not yet evaluated
APC Summary Available Sufficient evidence for dosage pathogenicity No evidence available
APOB Summary Available No evidence available No evidence available
APOC2 Gene associated with autosomal recessive phenotype Not yet evaluated
APP No evidence available Some evidence for dosage pathogenicity
AR Sufficient evidence for dosage pathogenicity No evidence available
ARFGEF2 Gene associated with autosomal recessive phenotype Not yet evaluated
ARG1 Gene associated with autosomal recessive phenotype Not yet evaluated
ARHGAP31 No evidence available No evidence available
ARHGEF6 No evidence available No evidence available
ARHGEF9 Some evidence for dosage pathogenicity No evidence available
ARID1A Some evidence for dosage pathogenicity No evidence available
ARID1B Sufficient evidence for dosage pathogenicity No evidence available
ARL6 Gene associated with autosomal recessive phenotype Not yet evaluated
ARL6IP1 Gene associated with autosomal recessive phenotype Not yet evaluated
ARSA Gene associated with autosomal recessive phenotype No evidence available
ARSD No Reported Evidence No evidence available No evidence available
ARSE Sufficient evidence for dosage pathogenicity No evidence available
ARX Sufficient evidence for dosage pathogenicity No evidence available
ASL Gene associated with autosomal recessive phenotype Not yet evaluated
ASPA Gene associated with autosomal recessive phenotype Not yet evaluated
ASPH Gene associated with autosomal recessive phenotype Not yet evaluated
ASPM Gene associated with autosomal recessive phenotype Not yet evaluated
ASXL1 Sufficient evidence for dosage pathogenicity No evidence available
ATCAY Gene associated with autosomal recessive phenotype Not yet evaluated
ATF6 Strong Gene associated with autosomal recessive phenotype No evidence available
ATP10A No evidence available No evidence available
ATP13A2 Gene associated with autosomal recessive phenotype Not yet evaluated
ATP2A1 Gene associated with autosomal recessive phenotype Not yet evaluated
ATP6AP2 No evidence available No evidence available
ATP6V0A2 Gene associated with autosomal recessive phenotype Not yet evaluated
ATP6V0A4 Gene associated with autosomal recessive phenotype Not yet evaluated
ATP6V1E1 No evidence available No evidence available
ATP7A Sufficient evidence for dosage pathogenicity No evidence available
ATP7B Summary Available Gene associated with autosomal recessive phenotype No evidence available
ATP8A2 Little evidence for dosage pathogenicity No evidence available
ATPAF2 Gene associated with autosomal recessive phenotype Not yet evaluated
ATRX Sufficient evidence for dosage pathogenicity No evidence available
AUTS2 Sufficient evidence for dosage pathogenicity No evidence available
AVPR2 Sufficient evidence for dosage pathogenicity No evidence available
B3GALNT2 Gene associated with autosomal recessive phenotype Not yet evaluated
B3GALT6 Gene associated with autosomal recessive phenotype Not yet evaluated
B4GALT1 Gene associated with autosomal recessive phenotype Not yet evaluated
B4GALT7 Gene associated with autosomal recessive phenotype Not yet evaluated
B9D1 Gene associated with autosomal recessive phenotype Not yet evaluated
BAG3 Definitive Sufficient evidence for dosage pathogenicity No evidence available
BBS12 Gene associated with autosomal recessive phenotype Not yet evaluated
BBS5 Gene associated with autosomal recessive phenotype No evidence available
BBS7 Gene associated with autosomal recessive phenotype Not yet evaluated
BCHE Gene associated with autosomal recessive phenotype Not yet evaluated
BCKDHB Gene associated with autosomal recessive phenotype Not yet evaluated
BCKDK Gene associated with autosomal recessive phenotype Not yet evaluated
BCOR Sufficient evidence for dosage pathogenicity No evidence available
BCR No evidence available No evidence available
BCS1L Gene associated with autosomal recessive phenotype Not yet evaluated
BIN1 Gene associated with autosomal recessive phenotype Not yet evaluated
BLM Gene associated with autosomal recessive phenotype Not yet evaluated
BLNK Gene associated with autosomal recessive phenotype Not yet evaluated
BMP4 Some evidence for dosage pathogenicity No evidence available
BMPER Gene associated with autosomal recessive phenotype Not yet evaluated
BMPR1A Summary Available Sufficient evidence for dosage pathogenicity No evidence available
BMPR2 Sufficient evidence for dosage pathogenicity No evidence available
BPY2 No evidence available No evidence available
BRAF Little evidence for dosage pathogenicity No evidence available
BRAT1 Gene associated with autosomal recessive phenotype Not yet evaluated
BRCA1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
BRCA2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
BRWD3 Some evidence for dosage pathogenicity No evidence available
BSND Gene associated with autosomal recessive phenotype No evidence available
BTD Summary Available Gene associated with autosomal recessive phenotype No evidence available
BTK Sufficient evidence for dosage pathogenicity No evidence available
BTRC No evidence available No evidence available
C15ORF41 Gene associated with autosomal recessive phenotype Not yet evaluated
C19ORF12 Gene associated with autosomal recessive phenotype Not yet evaluated
C1QB Definitive Gene associated with autosomal recessive phenotype No evidence available
C2ORF71 Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
C5ORF42 Gene associated with autosomal recessive phenotype Not yet evaluated
C6ORF70 Little evidence for dosage pathogenicity No evidence available
C8ORF37 Gene associated with autosomal recessive phenotype Not yet evaluated
CA12 Gene associated with autosomal recessive phenotype Not yet evaluated
CA5A Gene associated with autosomal recessive phenotype Not yet evaluated
CA8 Gene associated with autosomal recessive phenotype Not yet evaluated
CABP4 Gene associated with autosomal recessive phenotype Not yet evaluated
CACNA1C Little evidence for dosage pathogenicity No evidence available
CACNA1S Summary Available No evidence available No evidence available
CADPS2 No evidence available No evidence available
CANT1 Gene associated with autosomal recessive phenotype Not yet evaluated
CAPN3 Gene associated with autosomal recessive phenotype Not yet evaluated
CARD14 No evidence available No evidence available
CASK Sufficient evidence for dosage pathogenicity No evidence available
CASQ2 Gene associated with autosomal recessive phenotype Not yet evaluated
CASR No evidence available No evidence available
CATSPER2 Gene associated with autosomal recessive phenotype No evidence available
CBFB No evidence available No evidence available
CBL No evidence available No evidence available
CBS Summary Available Gene associated with autosomal recessive phenotype No evidence available
CC2D2A Gene associated with autosomal recessive phenotype No evidence available
CCBE1 Gene associated with autosomal recessive phenotype Not yet evaluated
CCDC103 Gene associated with autosomal recessive phenotype Not yet evaluated
CCDC11 Gene associated with autosomal recessive phenotype Not yet evaluated
CCDC39 Gene associated with autosomal recessive phenotype Not yet evaluated
CCDC40 Gene associated with autosomal recessive phenotype Not yet evaluated
CCDC8 Gene associated with autosomal recessive phenotype Not yet evaluated
CCT5 Gene associated with autosomal recessive phenotype Not yet evaluated
CD19 Gene associated with autosomal recessive phenotype Not yet evaluated
CD27 Gene associated with autosomal recessive phenotype Not yet evaluated
CD36 Gene associated with autosomal recessive phenotype Not yet evaluated
CD3D Gene associated with autosomal recessive phenotype Not yet evaluated
CD3E Definitive
CD3G Gene associated with autosomal recessive phenotype Not yet evaluated
CD59 Gene associated with autosomal recessive phenotype Not yet evaluated
CD8A Gene associated with autosomal recessive phenotype Not yet evaluated
CDAN1 Gene associated with autosomal recessive phenotype Not yet evaluated
CDH1 Summary Available
CDH15 No evidence available No evidence available
CDH23 Definitive Gene associated with autosomal recessive phenotype Not yet evaluated
CDHR1 Gene associated with autosomal recessive phenotype Not yet evaluated
CDK5RAP2 Gene associated with autosomal recessive phenotype Not yet evaluated
CDK6 Gene associated with autosomal recessive phenotype Not yet evaluated
CDKL5 Sufficient evidence for dosage pathogenicity No evidence available
CDKN1C Sufficient evidence for dosage pathogenicity No evidence available
CDKN2A Summary Available
CDT1 Gene associated with autosomal recessive phenotype Not yet evaluated
CDY1 No evidence available No evidence available
CEBPE Gene associated with autosomal recessive phenotype Not yet evaluated
CECR1 Gene associated with autosomal recessive phenotype Not yet evaluated
CENPJ Gene associated with autosomal recessive phenotype Not yet evaluated
CENPP No evidence available No evidence available
CEP164 Gene associated with autosomal recessive phenotype Not yet evaluated
CEP290 Gene associated with autosomal recessive phenotype No evidence available
CERS3 Gene associated with autosomal recessive phenotype Not yet evaluated
CFC1 Some evidence for dosage pathogenicity No evidence available
CFD Gene associated with autosomal recessive phenotype Not yet evaluated
CFL2 Gene associated with autosomal recessive phenotype Not yet evaluated
CFTR Gene associated with autosomal recessive phenotype Not yet evaluated
CHAT Gene associated with autosomal recessive phenotype Not yet evaluated
CHD1L Limited
CHD2 Sufficient evidence for dosage pathogenicity No evidence available
CHD7 Sufficient evidence for dosage pathogenicity No evidence available
CHD8 Some evidence for dosage pathogenicity No evidence available
CHKB Gene associated with autosomal recessive phenotype Not yet evaluated
CHM Sufficient evidence for dosage pathogenicity No evidence available
CHMP1A Gene associated with autosomal recessive phenotype Not yet evaluated
CHRDL1 Sufficient evidence for dosage pathogenicity No evidence available
CHRM3 Little evidence for dosage pathogenicity No evidence available
CHRNA7 Sufficient evidence for dosage pathogenicity Dosage sensitivity unlikely
CHST6 Gene associated with autosomal recessive phenotype Not yet evaluated
CHSY1 Gene associated with autosomal recessive phenotype Not yet evaluated
CIDEC Gene associated with autosomal recessive phenotype Not yet evaluated
CLCF1 Gene associated with autosomal recessive phenotype Not yet evaluated
CLCN5 Sufficient evidence for dosage pathogenicity No evidence available
CLCNKA Gene associated with autosomal recessive phenotype No evidence available
CLCNKB Gene associated with autosomal recessive phenotype No evidence available
CLDN14 Gene associated with autosomal recessive phenotype Not yet evaluated
CLMP Gene associated with autosomal recessive phenotype Not yet evaluated
CLN3 Gene associated with autosomal recessive phenotype Not yet evaluated
CLN8 Gene associated with autosomal recessive phenotype Not yet evaluated
CLNK No evidence available No evidence available
CLRN1 Gene associated with autosomal recessive phenotype Not yet evaluated
CNGB1 Gene associated with autosomal recessive phenotype Not yet evaluated
CNKSR2 Sufficient evidence for dosage pathogenicity No evidence available
CNNM4 Gene associated with autosomal recessive phenotype Not yet evaluated
CNTN1 Gene associated with autosomal recessive phenotype Not yet evaluated
CNTN2 Gene associated with autosomal recessive phenotype Not yet evaluated
CNTN4 Some evidence for dosage pathogenicity Dosage sensitivity unlikely
CNTNAP2 Little evidence for dosage pathogenicity No evidence available
COG1 Gene associated with autosomal recessive phenotype Not yet evaluated
COG4 Gene associated with autosomal recessive phenotype Not yet evaluated
COG7 Gene associated with autosomal recessive phenotype No evidence available
COG8 Gene associated with autosomal recessive phenotype No evidence available
COL11A1 Little evidence for dosage pathogenicity No evidence available
COL1A1 Sufficient evidence for dosage pathogenicity No evidence available
COL1A2 No evidence available No evidence available
COL2A1 Moderate Sufficient evidence for dosage pathogenicity No evidence available
COL3A1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
COL4A3 Gene associated with autosomal recessive phenotype No evidence available
COL4A5 Sufficient evidence for dosage pathogenicity No evidence available
COL5A1 Summary Available
COL5A2 Summary Available
COL9A1 No evidence available No evidence available
COL9A2 No evidence available No evidence available
COLEC11 Gene associated with autosomal recessive phenotype Not yet evaluated
COLQ Gene associated with autosomal recessive phenotype Not yet evaluated
COQ2 Gene associated with autosomal recessive phenotype Not yet evaluated
CORO1A Gene associated with autosomal recessive phenotype Not yet evaluated
COX10 Gene associated with autosomal recessive phenotype Not yet evaluated
COX14 Gene associated with autosomal recessive phenotype Not yet evaluated
COX15 Gene associated with autosomal recessive phenotype Not yet evaluated
COX20 Gene associated with autosomal recessive phenotype Not yet evaluated
COX6B1 Gene associated with autosomal recessive phenotype Not yet evaluated
CP Gene associated with autosomal recessive phenotype Not yet evaluated
CPA4 No evidence available No evidence available
CPN1 Gene associated with autosomal recessive phenotype Not yet evaluated
CPS1 Gene associated with autosomal recessive phenotype Not yet evaluated
CPT1A Gene associated with autosomal recessive phenotype Not yet evaluated
CRADD Gene associated with autosomal recessive phenotype Not yet evaluated
CREBBP Sufficient evidence for dosage pathogenicity No evidence available
CRHR1 No evidence available No evidence available
CRIPT Gene associated with autosomal recessive phenotype Not yet evaluated
CRKL No evidence available No evidence available
CRTAP Gene associated with autosomal recessive phenotype Not yet evaluated
CRYBA1 No evidence available No evidence available
CRYBB2 Little evidence for dosage pathogenicity No evidence available
CRYGC No evidence available No evidence available
CSF2RB Gene associated with autosomal recessive phenotype Not yet evaluated
CSPP1 Gene associated with autosomal recessive phenotype Not yet evaluated
CSTB Gene associated with autosomal recessive phenotype Not yet evaluated
CTDP1 Gene associated with autosomal recessive phenotype Not yet evaluated
CTH Gene associated with autosomal recessive phenotype Not yet evaluated
CTNND2 Some evidence for dosage pathogenicity No evidence available
CTNS Gene associated with autosomal recessive phenotype No evidence available
CTSB No evidence available No evidence available
CUBN Gene associated with autosomal recessive phenotype Not yet evaluated
CUL4B Sufficient evidence for dosage pathogenicity No evidence available
CYB5A Gene associated with autosomal recessive phenotype Not yet evaluated
CYBB Sufficient evidence for dosage pathogenicity No evidence available
CYP21A2 Gene associated with autosomal recessive phenotype No evidence available
CYP24A1 Gene associated with autosomal recessive phenotype Not yet evaluated
CYP27A1 Gene associated with autosomal recessive phenotype Not yet evaluated
CYP4F22 Gene associated with autosomal recessive phenotype Not yet evaluated
CYP4V2 Gene associated with autosomal recessive phenotype Not yet evaluated
D2HGDH Gene associated with autosomal recessive phenotype Not yet evaluated
DARS2 Gene associated with autosomal recessive phenotype Not yet evaluated
DAZ1 No evidence available No evidence available
DBH Gene associated with autosomal recessive phenotype Not yet evaluated
DBT Gene associated with autosomal recessive phenotype Not yet evaluated
DCLRE1C Gene associated with autosomal recessive phenotype Not yet evaluated
DCX Sufficient evidence for dosage pathogenicity No evidence available
DCXR Gene associated with autosomal recessive phenotype Not yet evaluated
DDB2 Gene associated with autosomal recessive phenotype Not yet evaluated
DDHD1 Gene associated with autosomal recessive phenotype No evidence available
DDOST Gene associated with autosomal recessive phenotype Not yet evaluated
DFNB31 Gene associated with autosomal recessive phenotype Not yet evaluated
DGKE Gene associated with autosomal recessive phenotype Not yet evaluated
DGUOK Gene associated with autosomal recessive phenotype Not yet evaluated
DHCR7 Gene associated with autosomal recessive phenotype No evidence available
DHODH Gene associated with autosomal recessive phenotype Not yet evaluated
DICER1 Definitive
DIRAS3 No evidence available No evidence available
DISC1 No evidence available No evidence available
DISP1 No evidence available No evidence available
DKC1 Little evidence for dosage pathogenicity No evidence available
DLG3 Sufficient evidence for dosage pathogenicity No evidence available
DLGAP2 No evidence available No evidence available
DLK1 No evidence available No evidence available
DLX1 No evidence available No evidence available
DLX2 No evidence available No evidence available
DLX5 No evidence available No evidence available
DLX6 No evidence available No evidence available
DMD Sufficient evidence for dosage pathogenicity No evidence available
DMP1 Gene associated with autosomal recessive phenotype Not yet evaluated
DMRT1 Some evidence for dosage pathogenicity No evidence available
DMRT2 No evidence available No evidence available
DMXL2 Moderate No evidence available No evidence available
DNAAF1 Gene associated with autosomal recessive phenotype Not yet evaluated
DNAH11 Gene associated with autosomal recessive phenotype Not yet evaluated
DNAH5 Gene associated with autosomal recessive phenotype Not yet evaluated
DNAI1 Gene associated with autosomal recessive phenotype Not yet evaluated
DNAI2 Gene associated with autosomal recessive phenotype Not yet evaluated
DNAJB6 No evidence available No evidence available
DNAJC6 Gene associated with autosomal recessive phenotype Not yet evaluated
DNASE1 No evidence available No evidence available
DNMT1 Definitive
DOCK7 Gene associated with autosomal recessive phenotype Not yet evaluated
DOCK8 Gene associated with autosomal recessive phenotype Not yet evaluated
DOK7 Gene associated with autosomal recessive phenotype Not yet evaluated
DPAGT1 Gene associated with autosomal recessive phenotype Not yet evaluated
DPM1 Gene associated with autosomal recessive phenotype Not yet evaluated
DPM3 Gene associated with autosomal recessive phenotype No evidence available
DPYS Gene associated with autosomal recessive phenotype Not yet evaluated
DRD5 No evidence available No evidence available
DSC2 Summary Available Some evidence for dosage pathogenicity No evidence available
DSC3 Gene associated with autosomal recessive phenotype Not yet evaluated
DSCR3 No evidence available No evidence available
DSE Gene associated with autosomal recessive phenotype Not yet evaluated
DSG2 Summary Available Little evidence for dosage pathogenicity No evidence available
DSG4 Gene associated with autosomal recessive phenotype Not yet evaluated
DSP Summary Available Little evidence for dosage pathogenicity No evidence available
DSPP No evidence available No evidence available
DYM Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
DYNC2H1 Gene associated with autosomal recessive phenotype Not yet evaluated
DYRK1A Sufficient evidence for dosage pathogenicity No evidence available
EARS2 Gene associated with autosomal recessive phenotype Not yet evaluated
EBP Sufficient evidence for dosage pathogenicity No evidence available
EDA Sufficient evidence for dosage pathogenicity No evidence available
EDNRB Sufficient evidence for dosage pathogenicity No evidence available
EFNB1 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
EFTUD2 Sufficient evidence for dosage pathogenicity No evidence available
EGR2 Summary Available No evidence available No evidence available
EHMT1 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
EIF2AK3 Gene associated with autosomal recessive phenotype Not yet evaluated
EIF2B1 Gene associated with autosomal recessive phenotype Not yet evaluated
EIF2B3 Gene associated with autosomal recessive phenotype Not yet evaluated
EIF4A3 Gene associated with autosomal recessive phenotype Not yet evaluated
ELK1 No evidence available No evidence available
ELN Sufficient evidence for dosage pathogenicity No evidence available
EMX2 Some evidence for dosage pathogenicity No evidence available
EN2 No evidence available No evidence available
ENG Summary Available Sufficient evidence for dosage pathogenicity No evidence available
ENO3 Gene associated with autosomal recessive phenotype Not yet evaluated
ENPP1 Gene associated with autosomal recessive phenotype Not yet evaluated
EP300 Sufficient evidence for dosage pathogenicity No evidence available
EPB42 Gene associated with autosomal recessive phenotype Not yet evaluated
EPCAM Summary Available
EPM2A Gene associated with autosomal recessive phenotype Not yet evaluated
ERCC1 Gene associated with autosomal recessive phenotype Not yet evaluated
ERCC2 Gene associated with autosomal recessive phenotype Not yet evaluated
ERCC5 Gene associated with autosomal recessive phenotype Not yet evaluated
ERCC6L2 Gene associated with autosomal recessive phenotype Not yet evaluated
ERCC8 Gene associated with autosomal recessive phenotype Not yet evaluated
ESCO2 Gene associated with autosomal recessive phenotype Not yet evaluated
ETFB Gene associated with autosomal recessive phenotype Not yet evaluated
ETFDH Gene associated with autosomal recessive phenotype Not yet evaluated
EVC2 Gene associated with autosomal recessive phenotype No evidence available
EVX2 No evidence available No evidence available
EXOSC3 Gene associated with autosomal recessive phenotype Not yet evaluated
EXPH5 Gene associated with autosomal recessive phenotype Not yet evaluated
EXT1 Sufficient evidence for dosage pathogenicity No evidence available
EXT2 Sufficient evidence for dosage pathogenicity No evidence available
EYA1 Sufficient evidence for dosage pathogenicity No evidence available
EYA4 Sufficient evidence for dosage pathogenicity No evidence available
EYS Gene associated with autosomal recessive phenotype Not yet evaluated
F10 Gene associated with autosomal recessive phenotype Not yet evaluated
F13A1 Gene associated with autosomal recessive phenotype Not yet evaluated
F13B Gene associated with autosomal recessive phenotype Not yet evaluated
F5 Summary Available
F7 Gene associated with autosomal recessive phenotype Not yet evaluated
F8 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
F9 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
FA2H Gene associated with autosomal recessive phenotype Not yet evaluated
FADD Gene associated with autosomal recessive phenotype Not yet evaluated
FAM134B Gene associated with autosomal recessive phenotype Not yet evaluated
FAM161A Gene associated with autosomal recessive phenotype Not yet evaluated
FAM20C Gene associated with autosomal recessive phenotype Not yet evaluated
FAM58A Some evidence for dosage pathogenicity No evidence available
FAM65B Strong
FAN1 Gene associated with autosomal recessive phenotype Not yet evaluated
FANCA Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
FANCB Sufficient evidence for dosage pathogenicity No evidence available
FANCC Gene associated with autosomal recessive phenotype Not yet evaluated
FANCD2 Gene associated with autosomal recessive phenotype Not yet evaluated
FANCF Gene associated with autosomal recessive phenotype Not yet evaluated
FANCI Gene associated with autosomal recessive phenotype Not yet evaluated
FARS2 Gene associated with autosomal recessive phenotype Not yet evaluated
FAS Sufficient evidence for dosage pathogenicity No evidence available
FASLG Gene associated with autosomal recessive phenotype No evidence available
FBN1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
FBP1 Gene associated with autosomal recessive phenotype Not yet evaluated
FBXO7 Gene associated with autosomal recessive phenotype Not yet evaluated
FBXW11 No evidence available Little evidence for dosage pathogenicity
FBXW4 No evidence available No evidence available
FGD1 Sufficient evidence for dosage pathogenicity No evidence available
FGD4 Gene associated with autosomal recessive phenotype Not yet evaluated
FGF10 Sufficient evidence for dosage pathogenicity No evidence available
FGF3 Gene associated with autosomal recessive phenotype Not yet evaluated
FGFR1 Sufficient evidence for dosage pathogenicity No evidence available
FGFR3 Definitive No evidence available No evidence available
FGFRL1 No evidence available No evidence available
FH Summary Available
FKBP14 Gene associated with autosomal recessive phenotype Not yet evaluated
FLCN Summary Available Sufficient evidence for dosage pathogenicity No evidence available
FLG Sufficient evidence for dosage pathogenicity No evidence available
FLNA Sufficient evidence for dosage pathogenicity No evidence available
FLNB No evidence available No evidence available
FLVCR2 Gene associated with autosomal recessive phenotype Not yet evaluated
FMR1 Sufficient evidence for dosage pathogenicity No evidence available
FOXC1 Sufficient evidence for dosage pathogenicity No evidence available
FOXC2 Sufficient evidence for dosage pathogenicity No evidence available
FOXE1 Gene associated with autosomal recessive phenotype Not yet evaluated
FOXF1 Sufficient evidence for dosage pathogenicity No evidence available
FOXG1 Sufficient evidence for dosage pathogenicity No evidence available
FOXL2 Sufficient evidence for dosage pathogenicity No evidence available
FOXP1 Sufficient evidence for dosage pathogenicity No evidence available
FOXP2 Little evidence for dosage pathogenicity No evidence available
FOXRED1 Gene associated with autosomal recessive phenotype Not yet evaluated
FREM1 No evidence available No evidence available
FRMD7 Sufficient evidence for dosage pathogenicity No evidence available
FSHB Gene associated with autosomal recessive phenotype Not yet evaluated
FTCD Gene associated with autosomal recessive phenotype Not yet evaluated
FTL No evidence available No evidence available
FTSJ1 Sufficient evidence for dosage pathogenicity No evidence available
FXN Gene associated with autosomal recessive phenotype Not yet evaluated
FYCO1 Gene associated with autosomal recessive phenotype No evidence available
FZD4 Sufficient evidence for dosage pathogenicity No evidence available
GAA Summary Available Gene associated with autosomal recessive phenotype Not yet evaluated
GABRB3 No evidence available No evidence available
GALC Gene associated with autosomal recessive phenotype Not yet evaluated
GALK1 Gene associated with autosomal recessive phenotype Not yet evaluated
GALNS Gene associated with autosomal recessive phenotype Not yet evaluated
GALNT3 Gene associated with autosomal recessive phenotype Not yet evaluated
GALR1 No evidence available No evidence available
GALT Gene associated with autosomal recessive phenotype Not yet evaluated
GAMT Gene associated with autosomal recessive phenotype Not yet evaluated
GAN Gene associated with autosomal recessive phenotype Not yet evaluated
GATA2 Sufficient evidence for dosage pathogenicity No evidence available
GATA3 Sufficient evidence for dosage pathogenicity No evidence available
GATA6 Sufficient evidence for dosage pathogenicity No evidence available
GATAD1 Gene associated with autosomal recessive phenotype Not yet evaluated
GBA Summary Available Gene associated with autosomal recessive phenotype No evidence available
GBA2 Gene associated with autosomal recessive phenotype Not yet evaluated
GBE1 Gene associated with autosomal recessive phenotype Not yet evaluated
GCDH Gene associated with autosomal recessive phenotype Not yet evaluated
GCH1 Sufficient evidence for dosage pathogenicity No evidence available
GCSH Gene associated with autosomal recessive phenotype Not yet evaluated
GDF2 Summary Available No evidence available No evidence available
GDF5 Sufficient evidence for dosage pathogenicity No evidence available
GDI1 Little evidence for dosage pathogenicity No evidence available
GFER Gene associated with autosomal recessive phenotype Not yet evaluated
GFM1 Gene associated with autosomal recessive phenotype Not yet evaluated
GIPC3 Gene associated with autosomal recessive phenotype Not yet evaluated
GJA1 No evidence available No evidence available
GJA5 Little evidence for dosage pathogenicity No evidence available
GJA8 Little evidence for dosage pathogenicity No evidence available
GJB2 Dosage sensitivity unlikely No evidence available
GJB6 No evidence available No evidence available
GK Sufficient evidence for dosage pathogenicity No evidence available
GLA Summary Available Sufficient evidence for dosage pathogenicity No evidence available
GLB1 Gene associated with autosomal recessive phenotype No evidence available
GLDC Gene associated with autosomal recessive phenotype No evidence available
GLI2 Sufficient evidence for dosage pathogenicity No evidence available
GLI3 Sufficient evidence for dosage pathogenicity No evidence available
GLIS3 Gene associated with autosomal recessive phenotype Not yet evaluated
GLMN Sufficient evidence for dosage pathogenicity No evidence available
GLRB Gene associated with autosomal recessive phenotype Not yet evaluated
GLUL Gene associated with autosomal recessive phenotype No evidence available
GMPPA Gene associated with autosomal recessive phenotype Not yet evaluated
GNAI3 No evidence available No evidence available
GNAS Sufficient evidence for dosage pathogenicity No evidence available
GNPAT Gene associated with autosomal recessive phenotype Not yet evaluated
GNRH1 Gene associated with autosomal recessive phenotype Not yet evaluated
GNS Gene associated with autosomal recessive phenotype Not yet evaluated
GOLGA2P2Y No evidence available No evidence available
GORAB Gene associated with autosomal recessive phenotype Not yet evaluated
GP1BB Gene associated with autosomal recessive phenotype Not yet evaluated
GP6 Gene associated with autosomal recessive phenotype Not yet evaluated
GPC3 Sufficient evidence for dosage pathogenicity No evidence available
GPC5 No evidence available No evidence available
GPC6 Gene associated with autosomal recessive phenotype No evidence available
GPD1 Gene associated with autosomal recessive phenotype Not yet evaluated
GPHN Some evidence for dosage pathogenicity No evidence available
GPIHBP1 Gene associated with autosomal recessive phenotype Not yet evaluated
GPR179 Gene associated with autosomal recessive phenotype Not yet evaluated
GPR56 Gene associated with autosomal recessive phenotype No evidence available
GPSM2 Gene associated with autosomal recessive phenotype Not yet evaluated
GPX4 Gene associated with autosomal recessive phenotype Not yet evaluated
GRB10 No evidence available No evidence available
GRHPR Gene associated with autosomal recessive phenotype Not yet evaluated
GRIA3 Sufficient evidence for dosage pathogenicity No evidence available
GRID1 No evidence available No evidence available
GRIK2 Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
GRIN2A Little evidence for dosage pathogenicity No evidence available
GRIN2B Sufficient evidence for dosage pathogenicity No evidence available
GRIP1 Gene associated with autosomal recessive phenotype No evidence available
GRM1 Gene associated with autosomal recessive phenotype Not yet evaluated
GRM6 Gene associated with autosomal recessive phenotype Not yet evaluated
GTF2H5 Gene associated with autosomal recessive phenotype Not yet evaluated
GTF2I No evidence available No evidence available
GTF2IRD1 No evidence available No evidence available
GTF2IRD2 No evidence available No evidence available
GUCY2C No evidence available No evidence available
GUSB Gene associated with autosomal recessive phenotype No evidence available
GYS2 Gene associated with autosomal recessive phenotype Not yet evaluated
H19 No evidence available No evidence available
H6PD Gene associated with autosomal recessive phenotype Not yet evaluated
HBA1 Gene associated with autosomal recessive phenotype No evidence available
HBA2 Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
HCCS Sufficient evidence for dosage pathogenicity No evidence available
HDAC4 Little evidence for dosage pathogenicity No evidence available
HEXB Gene associated with autosomal recessive phenotype Not yet evaluated
HFE Gene associated with autosomal recessive phenotype No evidence available
HFE (C282Y Homozygotes only) Summary Available
HFE2 Gene associated with autosomal recessive phenotype Not yet evaluated
HFM1 Gene associated with autosomal recessive phenotype Not yet evaluated
HGF Gene associated with autosomal recessive phenotype Not yet evaluated
HGSNAT Gene associated with autosomal recessive phenotype Not yet evaluated
HIRA No evidence available No evidence available
HLCS Gene associated with autosomal recessive phenotype Not yet evaluated
HMBS Summary Available
HMGA2 Some evidence for dosage pathogenicity No evidence available
HNF1A Summary Available
HNF1B Sufficient evidence for dosage pathogenicity No evidence available
HNRNPK Moderate Sufficient evidence for dosage pathogenicity No evidence available
HNRNPU Some evidence for dosage pathogenicity No evidence available
HOXD13 Sufficient evidence for dosage pathogenicity No evidence available
HOXD9 No evidence available No evidence available
HPGD Gene associated with autosomal recessive phenotype Not yet evaluated
HPRT1 Sufficient evidence for dosage pathogenicity No evidence available
HPS1 Gene associated with autosomal recessive phenotype Not yet evaluated
HPS3 Gene associated with autosomal recessive phenotype Not yet evaluated
HPSE2 Gene associated with autosomal recessive phenotype No evidence available
HRAS No evidence available No evidence available
HSD17B10 No evidence available No evidence available
HSD17B3 Gene associated with autosomal recessive phenotype Not yet evaluated
HSD3B7 Gene associated with autosomal recessive phenotype Not yet evaluated
HSPG2 Gene associated with autosomal recessive phenotype No evidence available
HUWE1 No evidence available Some evidence for dosage pathogenicity
HYLS1 Gene associated with autosomal recessive phenotype Not yet evaluated
HYMAI No evidence available No evidence available
IDS Sufficient evidence for dosage pathogenicity No evidence available
IDUA Gene associated with autosomal recessive phenotype Not yet evaluated
IFT140 Gene associated with autosomal recessive phenotype Not yet evaluated
IFT27 Gene associated with autosomal recessive phenotype Not yet evaluated
IFT43 Gene associated with autosomal recessive phenotype Not yet evaluated
IGF1R Sufficient evidence for dosage pathogenicity No evidence available
IGF2 No evidence available No evidence available
IGF2R No evidence available No evidence available
IGHMBP2 Gene associated with autosomal recessive phenotype Not yet evaluated
IGLL1 Gene associated with autosomal recessive phenotype Not yet evaluated
IKBKG Sufficient evidence for dosage pathogenicity No evidence available
IL10RA Gene associated with autosomal recessive phenotype Not yet evaluated
IL17RA Gene associated with autosomal recessive phenotype Not yet evaluated
IL1RAPL1 Sufficient evidence for dosage pathogenicity No evidence available
IL21R Gene associated with autosomal recessive phenotype Not yet evaluated
IL2RA Gene associated with autosomal recessive phenotype Not yet evaluated
IMPA1 No evidence available No evidence available
IMPAD1 Gene associated with autosomal recessive phenotype Not yet evaluated
INPP5E Gene associated with autosomal recessive phenotype Not yet evaluated
INS No evidence available No evidence available
IRAK4 Gene associated with autosomal recessive phenotype Not yet evaluated
IRF6 Sufficient evidence for dosage pathogenicity No evidence available
ISPD Gene associated with autosomal recessive phenotype Not yet evaluated
ITCH Gene associated with autosomal recessive phenotype Not yet evaluated
ITGA3 Gene associated with autosomal recessive phenotype Not yet evaluated
ITGB2 Gene associated with autosomal recessive phenotype Not yet evaluated
ITGB3 No evidence available No evidence available
ITK Gene associated with autosomal recessive phenotype Not yet evaluated
IYD Gene associated with autosomal recessive phenotype Not yet evaluated
JAG1 Sufficient evidence for dosage pathogenicity No evidence available
JAM3 Gene associated with autosomal recessive phenotype No evidence available
JARID2 No evidence available No evidence available
KAL1 Sufficient evidence for dosage pathogenicity No evidence available
KANK1 No evidence available No evidence available
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available
KARS Gene associated with autosomal recessive phenotype Not yet evaluated
KAT6B Little evidence for dosage pathogenicity No evidence available
KCNH2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
KCNJ1 Gene associated with autosomal recessive phenotype No evidence available
KCNK9 No evidence available No evidence available
KCNQ1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
KCNQ1OT1 Little evidence for dosage pathogenicity Some evidence for dosage pathogenicity
KCNQ2 Sufficient evidence for dosage pathogenicity No evidence available
KCNV2 Gene associated with autosomal recessive phenotype Not yet evaluated
KCTD7 Gene associated with autosomal recessive phenotype Not yet evaluated
KDM5C Sufficient evidence for dosage pathogenicity No evidence available
KDM6A Sufficient evidence for dosage pathogenicity No evidence available
KERA Gene associated with autosomal recessive phenotype Not yet evaluated
KHDC3L Gene associated with autosomal recessive phenotype Not yet evaluated
KIAA1279 Gene associated with autosomal recessive phenotype Not yet evaluated
KIAA2022 Little evidence for dosage pathogenicity No evidence available
KIF11 Sufficient evidence for dosage pathogenicity No evidence available
KIF1A No evidence available No evidence available
KIF1C Gene associated with autosomal recessive phenotype Not yet evaluated
KIF7 Gene associated with autosomal recessive phenotype Not yet evaluated
KISS1 Gene associated with autosomal recessive phenotype Not yet evaluated
KLF14 No evidence available No evidence available
KLF8 No evidence available No evidence available
KRAS No evidence available No evidence available
L1CAM Sufficient evidence for dosage pathogenicity No evidence available
L3MBTL1 No evidence available No evidence available
LAMA1 Gene associated with autosomal recessive phenotype Not yet evaluated
LAMA3 Gene associated with autosomal recessive phenotype Not yet evaluated
LAMB1 Moderate
LAMC2 Gene associated with autosomal recessive phenotype Not yet evaluated
LAMP2 Sufficient evidence for dosage pathogenicity No evidence available
LARGE Gene associated with autosomal recessive phenotype Not yet evaluated
LBR Moderate Gene associated with autosomal recessive phenotype No evidence available
LBX1 No evidence available No evidence available
LCA5 Gene associated with autosomal recessive phenotype Not yet evaluated
LCT Gene associated with autosomal recessive phenotype Not yet evaluated
LDLR Summary Available Sufficient evidence for dosage pathogenicity No evidence available
LEMD3 Sufficient evidence for dosage pathogenicity No evidence available
LEPR Gene associated with autosomal recessive phenotype Not yet evaluated
LEPRE1 Gene associated with autosomal recessive phenotype No evidence available
LETM1 No evidence available No evidence available
LFNG Gene associated with autosomal recessive phenotype Not yet evaluated
LHX3 Gene associated with autosomal recessive phenotype Not yet evaluated
LHX4 Sufficient evidence for dosage pathogenicity No evidence available
LIG4 Gene associated with autosomal recessive phenotype Not yet evaluated
LIMK1 No evidence available No evidence available
LINS Gene associated with autosomal recessive phenotype Not yet evaluated
LIPA Gene associated with autosomal recessive phenotype Not yet evaluated
LITAF Summary Available No evidence available No evidence available
LMAN1 Gene associated with autosomal recessive phenotype Not yet evaluated
LMBR1 Gene associated with autosomal recessive phenotype No evidence available
LMNA Summary Available Some evidence for dosage pathogenicity No evidence available
LMNB1 No evidence available Sufficient evidence for dosage pathogenicity
LMX1B Sufficient evidence for dosage pathogenicity No evidence available
LOXHD1 Gene associated with autosomal recessive phenotype Not yet evaluated
LPAR6 Gene associated with autosomal recessive phenotype Not yet evaluated
LPIN2 Gene associated with autosomal recessive phenotype Not yet evaluated
LRAT Gene associated with autosomal recessive phenotype Not yet evaluated
LRBA Gene associated with autosomal recessive phenotype Not yet evaluated
LRP2 Gene associated with autosomal recessive phenotype No evidence available
LRP5 Some evidence for dosage pathogenicity No evidence available
LRPAP1 Gene associated with autosomal recessive phenotype Not yet evaluated
LRPPRC Gene associated with autosomal recessive phenotype Not yet evaluated
LRRC6 Gene associated with autosomal recessive phenotype Not yet evaluated
LRTOMT Definitive
LSS No evidence available No evidence available
LYRM7 Gene associated with autosomal recessive phenotype Not yet evaluated
LYST Gene associated with autosomal recessive phenotype Not yet evaluated
MAFB No evidence available No evidence available
MAGEL2 Some evidence for dosage pathogenicity No evidence available
MAGT1 Some evidence for dosage pathogenicity No evidence available
MALT1 Gene associated with autosomal recessive phenotype Not yet evaluated
MAN2B1 Gene associated with autosomal recessive phenotype Not yet evaluated
MAOA Little evidence for dosage pathogenicity No evidence available
MAP2K1 No evidence available No evidence available
MAP2K2 Little evidence for dosage pathogenicity No evidence available
MAP3K1 No evidence available No evidence available
MAPT No evidence available No evidence available
MARVELD2 Gene associated with autosomal recessive phenotype Not yet evaluated
MASP2 Gene associated with autosomal recessive phenotype Not yet evaluated
MATN3 No evidence available No evidence available
MBD5 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
MC2R Gene associated with autosomal recessive phenotype Not yet evaluated
MCCC1 Gene associated with autosomal recessive phenotype Not yet evaluated
MCEE Summary Available Gene associated with autosomal recessive phenotype No evidence available
MCFD2 Gene associated with autosomal recessive phenotype Not yet evaluated
MCPH1 Gene associated with autosomal recessive phenotype Not yet evaluated
MECP2 Sufficient evidence for dosage pathogenicity Sufficient evidence for dosage pathogenicity
MED12 No evidence available No evidence available
MED13L Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
MEF2C Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
MEFV Summary Available
MEG3 Little evidence for dosage pathogenicity No evidence available
MEIS2 Some evidence for dosage pathogenicity No evidence available
MEN1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
MEST No evidence available No evidence available
MET Summary Available No evidence available No evidence available
METTL23 Gene associated with autosomal recessive phenotype Not yet evaluated
MFHAS1 No evidence available No evidence available
MFN2 No evidence available No evidence available
MFRP Gene associated with autosomal recessive phenotype Not yet evaluated
MFSD8 Gene associated with autosomal recessive phenotype Not yet evaluated
MID1 Sufficient evidence for dosage pathogenicity No evidence available
MID2 No evidence available No evidence available
MITF Sufficient evidence for dosage pathogenicity No evidence available
MKKS Gene associated with autosomal recessive phenotype Not yet evaluated
MKRN3 No evidence available No evidence available
MKS1 Gene associated with autosomal recessive phenotype Not yet evaluated
MLC1 Gene associated with autosomal recessive phenotype Not yet evaluated
MLH1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
MLL Some evidence for dosage pathogenicity No evidence available
MLL2 Sufficient evidence for dosage pathogenicity No evidence available
MLPH Gene associated with autosomal recessive phenotype Not yet evaluated
MLYCD Gene associated with autosomal recessive phenotype Not yet evaluated
MMAA Summary Available Gene associated with autosomal recessive phenotype No evidence available
MMAB Summary Available
MMACHC Gene associated with autosomal recessive phenotype Not yet evaluated
MMADHC Summary Available Gene associated with autosomal recessive phenotype No evidence available
MNX1 Sufficient evidence for dosage pathogenicity No evidence available
MOCS2 Gene associated with autosomal recessive phenotype Not yet evaluated
MPDZ Gene associated with autosomal recessive phenotype Not yet evaluated
MPLKIP Gene associated with autosomal recessive phenotype Not yet evaluated
MPZ Summary Available
MSH2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
MSH6 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
MSX2 Sufficient evidence for dosage pathogenicity No evidence available
MTAP Little evidence for dosage pathogenicity No evidence available
MTFMT Gene associated with autosomal recessive phenotype Not yet evaluated
MTHFR Gene associated with autosomal recessive phenotype Not yet evaluated
MTM1 Sufficient evidence for dosage pathogenicity No evidence available
MTMR2 Gene associated with autosomal recessive phenotype Not yet evaluated
MTO1 Gene associated with autosomal recessive phenotype Not yet evaluated
MTR Gene associated with autosomal recessive phenotype Not yet evaluated
MTRR Gene associated with autosomal recessive phenotype Not yet evaluated
MTTP Gene associated with autosomal recessive phenotype Not yet evaluated
MUT Summary Available Gene associated with autosomal recessive phenotype No evidence available
MUTYH Summary Available Gene associated with autosomal recessive phenotype No evidence available
MYBPC3 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
MYCN Sufficient evidence for dosage pathogenicity No evidence available
MYH11 Summary Available No evidence available No evidence available
MYH7 Summary Available No evidence available No evidence available
MYL2 Summary Available Gene associated with autosomal recessive phenotype No evidence available
MYL3 Summary Available No evidence available No evidence available
MYLK Summary Available Little evidence for dosage pathogenicity No evidence available
MYO15A Gene associated with autosomal recessive phenotype Not yet evaluated
MYO1E Gene associated with autosomal recessive phenotype Not yet evaluated
MYO5A Gene associated with autosomal recessive phenotype Not yet evaluated
MYO5B Gene associated with autosomal recessive phenotype No evidence available
MYO9A Limited
NAALADL2 No evidence available No evidence available
NAT8L Gene associated with autosomal recessive phenotype Not yet evaluated
NBAS Gene associated with autosomal recessive phenotype Not yet evaluated
NCF1 Gene associated with autosomal recessive phenotype No evidence available
NCF2 Gene associated with autosomal recessive phenotype Not yet evaluated
NCF4 Gene associated with autosomal recessive phenotype Not yet evaluated
NDE1 Gene associated with autosomal recessive phenotype No evidence available
NDN No evidence available No evidence available
NDP Sufficient evidence for dosage pathogenicity No evidence available
NDRG1 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFA1 No evidence available No evidence available
NDUFA10 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFAF1 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFAF2 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFAF5 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFB3 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFS4 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFS6 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFS7 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFS8 Gene associated with autosomal recessive phenotype Not yet evaluated
NDUFV1 Gene associated with autosomal recessive phenotype No evidence available
NDUFV2 Gene associated with autosomal recessive phenotype Not yet evaluated
NEBL No evidence available No evidence available
NEFL Summary Available
NEK1 Gene associated with autosomal recessive phenotype No evidence available
NF1 Sufficient evidence for dosage pathogenicity No evidence available
NF2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
NFIA Sufficient evidence for dosage pathogenicity No evidence available
NFIX Little evidence for dosage pathogenicity No evidence available
NGLY1 Definitive Gene associated with autosomal recessive phenotype No evidence available
NHP2 Limited Gene associated with autosomal recessive phenotype No evidence available
NHS Sufficient evidence for dosage pathogenicity No evidence available
NIPA1 No evidence available No evidence available
NIPA2 No evidence available No evidence available
NIPBL Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
NKX2-5 Sufficient evidence for dosage pathogenicity No evidence available
NKX3-2 Gene associated with autosomal recessive phenotype Not yet evaluated
NLGN1 No evidence available No evidence available
NLGN3 No evidence available No evidence available
NNAT No evidence available No evidence available
NODAL Little evidence for dosage pathogenicity No evidence available
NOG Sufficient evidence for dosage pathogenicity No evidence available
NOTCH2 No evidence available No evidence available
NOTCH3 Summary Available
NPC1 Gene associated with autosomal recessive phenotype Not yet evaluated
NPHP1 Gene associated with autosomal recessive phenotype No evidence available
NPHP4 Gene associated with autosomal recessive phenotype Not yet evaluated
NPHS1 Gene associated with autosomal recessive phenotype Not yet evaluated
NPTX2 No evidence available No evidence available
NR0B1 Sufficient evidence for dosage pathogenicity No evidence available
NR2F1 No evidence available No evidence available
NR2F2 No evidence available No evidence available
NR5A1 Sufficient evidence for dosage pathogenicity No evidence available
NRG3 No evidence available No evidence available
NRXN1 Sufficient evidence for dosage pathogenicity No evidence available
NSD1 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
NSDHL Sufficient evidence for dosage pathogenicity No evidence available
NXF5 Little evidence for dosage pathogenicity No evidence available
NYX Sufficient evidence for dosage pathogenicity No evidence available
OAT Gene associated with autosomal recessive phenotype Not yet evaluated
OBSL1 Gene associated with autosomal recessive phenotype Not yet evaluated
OCA2 Gene associated with autosomal recessive phenotype No evidence available
OCLN Gene associated with autosomal recessive phenotype Not yet evaluated
OCRL Sufficient evidence for dosage pathogenicity No evidence available
OFD1 Sufficient evidence for dosage pathogenicity No evidence available
OPHN1 Sufficient evidence for dosage pathogenicity No evidence available
OR5AU1 No evidence available No evidence available
ORC4 Gene associated with autosomal recessive phenotype No evidence available
ORC6 Gene associated with autosomal recessive phenotype Not yet evaluated
OSBPL5 No evidence available No evidence available
OSTM1 Gene associated with autosomal recessive phenotype Not yet evaluated
OTC Summary Available Sufficient evidence for dosage pathogenicity No evidence available
OTOA Gene associated with autosomal recessive phenotype Not yet evaluated
OTOF Definitive Gene associated with autosomal recessive phenotype Not yet evaluated
OTOGL Gene associated with autosomal recessive phenotype Not yet evaluated
OTX2 Sufficient evidence for dosage pathogenicity No evidence available
OXCT1 Gene associated with autosomal recessive phenotype Not yet evaluated
PAFAH1B1 Sufficient evidence for dosage pathogenicity No evidence available
PAH Summary Available Gene associated with autosomal recessive phenotype Gene associated with autosomal recessive phenotype
PAK2 Little evidence for dosage pathogenicity Little evidence for dosage pathogenicity
PAK3 Some evidence for dosage pathogenicity No evidence available
PALB2 Definitive Summary Available
PARK7 Gene associated with autosomal recessive phenotype Not yet evaluated
PAX1 Gene associated with autosomal recessive phenotype Not yet evaluated
PAX2 Sufficient evidence for dosage pathogenicity No evidence available
PAX3 Sufficient evidence for dosage pathogenicity No evidence available
PAX6 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity
PAX8 Some evidence for dosage pathogenicity No evidence available
PAX9 Sufficient evidence for dosage pathogenicity No evidence available
PC Gene associated with autosomal recessive phenotype Not yet evaluated
PCCA Gene associated with autosomal recessive phenotype Not yet evaluated
PCDH15 Definitive Gene associated with autosomal recessive phenotype Not yet evaluated
PCDH19 Sufficient evidence for dosage pathogenicity No evidence available
PCDH9 No evidence available No evidence available
PCSK9 Summary Available Dosage sensitivity unlikely No evidence available
PCYT1A Gene associated with autosomal recessive phenotype Not yet evaluated
PDE4D No evidence available No evidence available
PDE6C Gene associated with autosomal recessive phenotype Not yet evaluated
PDHA1 Sufficient evidence for dosage pathogenicity No evidence available
PDHX Gene associated with autosomal recessive phenotype Not yet evaluated
PDP1 Gene associated with autosomal recessive phenotype Not yet evaluated
PDSS2 Gene associated with autosomal recessive phenotype Not yet evaluated
PDX1 Gene associated with autosomal recessive phenotype Not yet evaluated
PEG10 No evidence available No evidence available
PEG3 No evidence available No evidence available
PEPD Gene associated with autosomal recessive phenotype Not yet evaluated
PEX1 Gene associated with autosomal recessive phenotype Not yet evaluated
PEX11B Gene associated with autosomal recessive phenotype Not yet evaluated
PEX14 Gene associated with autosomal recessive phenotype Not yet evaluated
PEX16 Gene associated with autosomal recessive phenotype Not yet evaluated
PEX26 Gene associated with autosomal recessive phenotype Not yet evaluated
PEX3 Gene associated with autosomal recessive phenotype Not yet evaluated
PEX7 Gene associated with autosomal recessive phenotype Not yet evaluated
PGAP3 Gene associated with autosomal recessive phenotype Not yet evaluated
PGK1 Sufficient evidence for dosage pathogenicity No evidence available
PGM1 Gene associated with autosomal recessive phenotype Not yet evaluated
PGM3 Gene associated with autosomal recessive phenotype Not yet evaluated
PHC1 Gene associated with autosomal recessive phenotype Not yet evaluated
PHEX Sufficient evidence for dosage pathogenicity No evidence available
PHF21A No evidence available No evidence available
PHF6 Sufficient evidence for dosage pathogenicity No evidence available
PHF8 Sufficient evidence for dosage pathogenicity No evidence available
PHKB Gene associated with autosomal recessive phenotype Not yet evaluated
PHKG2 Gene associated with autosomal recessive phenotype Not yet evaluated
PHLDA2 No evidence available No evidence available
PHYH Gene associated with autosomal recessive phenotype Not yet evaluated
PIGA Some evidence for dosage pathogenicity No evidence available
PIGN Gene associated with autosomal recessive phenotype Not yet evaluated
PIGO Gene associated with autosomal recessive phenotype Not yet evaluated
PIGW Gene associated with autosomal recessive phenotype Not yet evaluated
PIK3CA No evidence available No evidence available
PIK3R2 No evidence available No evidence available
PINK1 Gene associated with autosomal recessive phenotype Not yet evaluated
PIP5K1C Gene associated with autosomal recessive phenotype Not yet evaluated
PITPNA No evidence available No evidence available
PITX2 Sufficient evidence for dosage pathogenicity No evidence available
PITX3 No evidence available No evidence available
PKD1 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
PKD2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
PKP2 Summary Available Sufficient evidence for dosage pathogenicity No evidence available
PLA2G6 Gene associated with autosomal recessive phenotype Not yet evaluated
PLAGL1