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Cambridge Genomics Laboratory (East Genomic Laboratory Hub, NHS Genomic Medicine Service)

General information

Cambridge Genomics Laboratory
East Genomic Laboratory Hub, NHS Genomic Medicine Service
Cambridge Biomedical Campus
Hills Road
Cambridge
Cambridgeshire
United Kingdom - CB2 0QQ
https://www.eastgenomics.nhs.uk
Organization ID: 288359

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3231

Gene

GeneSubmissionsLast Updated
AAGAB1Jun 24, 2025
AARS12Mar 3, 2026
ABCA12Jun 24, 2025
ABCA42Jun 24, 2025
ABCB72Jun 24, 2025
ABCC94Jun 24, 2025
ABCD12Jun 24, 2025
ABL12Jul 15, 2025
ACAN3Jan 9, 2026
ACSL41Jun 24, 2025
ACTB1Jun 24, 2025
ACTL6A1Jun 24, 2025
ACTN21Jun 24, 2025
ACVR11Jun 24, 2025
ADAR2Jun 24, 2025
ADCY52Jun 24, 2025
ADGRG11Jun 24, 2025
ADGRV17Jun 24, 2025
ADNP3Jun 24, 2025
AFF21Jun 24, 2025
AFF41Jun 24, 2025
AFG3L21Jun 24, 2025
AGA2Jun 24, 2025
AGPAT21Jan 9, 2026
AHDC16Jun 24, 2025
AHI14Jun 24, 2025
AIRE1May 14, 2026
AKT31Jun 24, 2025
ALB2May 14, 2026
ALDH18A15Jun 24, 2025
ALG135Jun 24, 2025
ALMS15Mar 3, 2026
ALOX12B2Jun 24, 2025
ALOXE32Jun 24, 2025
ALPL20Jul 27, 2026
ALX41Jun 24, 2025
AMER15Jun 24, 2025
AMH1Jan 9, 2026
ANAPC11Jan 9, 2026
ANKRD1112Jun 24, 2025
ANO32Jun 24, 2025
ANOS12Jan 6, 2026
AP1S21Jun 24, 2025
AP2S11Jan 9, 2026
AP3B11Jun 24, 2025
AP4E11Jun 24, 2025
AP4M11Jun 24, 2025
APC10Apr 17, 2026
APOA51Jun 24, 2025
APOB89Jul 27, 2026
APOE22Jul 27, 2026
APTX1Jun 24, 2025
AR1Jun 9, 2026
ARFGEF1-DT1Jun 24, 2025
ARHGAP312Jun 24, 2025
ARHGEF62Jun 24, 2025
ARHGEF91Jun 24, 2025
ARID1A5Jun 24, 2025
ARID1B7Jun 24, 2025
ARID21Jun 24, 2025
ARL61Jun 24, 2025
ARSL3Jun 24, 2025
ARX1Jun 24, 2025
ASH1L5Jun 24, 2025
ASXL15Jun 24, 2025
ASXL22Jun 24, 2025
ASXL39Jun 24, 2025
ATAD3A9Jun 24, 2025
ATL11Jun 24, 2025
ATM21Apr 17, 2026
ATN11Jun 24, 2025
ATP13A22Jun 24, 2025
ATP1A11Jun 24, 2025
ATP1A33Jan 12, 2026
ATP6AP11Jun 24, 2025
ATP6V1A1Jun 24, 2025
ATP6V1B21Jun 24, 2025
ATP7A1Jun 24, 2025
ATRIP1Jun 24, 2025
ATRIP-TREX11Jun 24, 2025
ATRX6Jun 24, 2025
ATXN7L3-AS11Jun 24, 2025
AUTS24Jun 24, 2025
BACH21Jun 24, 2025
BBS12Mar 3, 2026
BBS103Mar 3, 2026
BBS121Jul 27, 2026
BBS23Mar 3, 2026
BBS41Mar 3, 2026
BBS52Jun 24, 2025
BBS94Mar 3, 2026
BCL11A2Jun 24, 2025
BCL11B1Jun 24, 2025
BCOR8Jun 24, 2025
BEST11Jun 24, 2025
BICD21Dec 5, 2024
BLM1Jul 27, 2026
BMP44Apr 17, 2026
BMPR1A2Jul 27, 2026
BPTF3Jun 24, 2025
BRAF2Jun 24, 2025
BRAT12Jun 24, 2025
BRCA150Jul 27, 2026
BRCA288Jul 27, 2026
BRF13Jun 24, 2025
BRIP15May 14, 2026
BRPF12Jun 24, 2025
BRWD32Jun 24, 2025
BSCL23Jun 24, 2025
C10orf1053Jun 24, 2025
C11orf6513Feb 23, 2026
C17orf1071Jun 24, 2025
CABP41Jun 24, 2025
CACNA1A9Mar 3, 2026
CACNA1C3Jun 24, 2025
CACNA1C-AS12Jun 24, 2025
CACNA1D6Jun 24, 2025
CACNA1E2Jun 24, 2025
CACNA1F1Jun 24, 2025
CACNA1G5Jun 24, 2025
CACNA1S1Jun 24, 2025
CAMK2B4Jun 24, 2025
CAMTA14Jun 24, 2025
CAPN31Jul 3, 2025
CAPN51Jun 24, 2025
CARMIL21Jun 24, 2025
CASK2Apr 20, 2026
CASR26Jun 9, 2026
CAST6Mar 3, 2026
CAT2Jun 24, 2025
CATIP-AS21Jun 24, 2025
CBL4Jan 9, 2026
CBS3Jun 24, 2025
CC2D2A3Jun 24, 2025
CCDC226Jun 24, 2025
CCDC391Jun 24, 2025
CCDC406Jun 24, 2025
CCDC501Jun 24, 2025
CCDC88C7Jun 24, 2025
CCDST2Jul 3, 2025
CDAN11Jun 24, 2025
CDC421Jun 24, 2025
CDC732Jan 12, 2026
CDH152Jun 24, 2025
CDH238Jun 24, 2025
CDK133Apr 20, 2026
CDK5RAP22Jun 24, 2025
CDKL53Jun 24, 2025
CDKN1B1Jan 12, 2026
CDKN1C2May 14, 2026
CDON4Jun 24, 2025
CEP2902Jun 24, 2025
CEP412Jun 24, 2025
CFI1Jun 24, 2025
CFTR2Jan 12, 2026
CHAMP13Jun 24, 2025
CHD27Jun 24, 2025
CHD31Jun 24, 2025
CHD42Jun 24, 2025
CHD76Jan 9, 2026
CHD87Jun 24, 2025
CHEK211Jul 27, 2026
CHMP2B1Jun 24, 2025
CHRDL11Jun 24, 2025
CHRNA21Jun 24, 2025
CHRNE1Jun 24, 2025
CIC7Jun 24, 2025
CIT2Jun 24, 2025
CLCN12Jun 24, 2025
CLCN23Jun 24, 2025
CLCN42Jun 24, 2025
CLTC2Jun 24, 2025
CNNM23Jun 24, 2025
CNOT32Jun 24, 2025
CNTNAP21Apr 20, 2026
COASY2Jun 24, 2025
COG11Jun 24, 2025
COG51Jun 24, 2025
COL11A19Jul 27, 2026
COL11A21Jun 24, 2025
COL12A12Jun 24, 2025
COL1A14Jul 11, 2025
COL1A29Jun 24, 2025
COL2A131Jul 27, 2026
COL4A19Jun 24, 2025
COL4A25Jun 24, 2025
COL4A2-AS22Jun 24, 2025
COL4A34Jun 24, 2025
COL4A44Jun 24, 2025
COL4A63Jun 24, 2025
COL5A12Jun 24, 2025
COL5A22Jun 24, 2025
COL6A11Jun 24, 2025
COL6A25Jun 24, 2025
COL6A38Jun 24, 2025
COL9A11Jun 24, 2025
COL9A31Jun 24, 2025
COQ41Jun 24, 2025
CPA61Jun 24, 2025
CPE1Mar 3, 2026
CPLANE14Jun 24, 2025
CRB11Jun 24, 2025
CRB22Jun 24, 2025
CREBBP12Jun 24, 2025
CSF1R2Jun 24, 2025
CSNK2A11Jun 24, 2025
CSNK2B1Jun 24, 2025
CTCF1Jun 24, 2025
CTNNB13Jun 24, 2025
CTSA1Mar 3, 2026
CUBN2Jun 24, 2025
CUL4B1Jun 24, 2025
CUX24Jun 24, 2025
CYP2R11Jan 9, 2026
DCTN11Jun 24, 2025
DCTN51Jan 9, 2026
DCX3Jun 24, 2025
DDX3X2Jun 24, 2025
DEAF12Jun 24, 2025
DEPDC56Jun 24, 2025
DES1Jun 24, 2025
DHX302Jun 24, 2025
DIAPH12Jun 24, 2025
DICER11Jun 24, 2025
DIPK1A1Jun 24, 2025
DMD14Apr 20, 2026
DMP1-AS13Jun 24, 2025
DNAAF41Jun 24, 2025
DNAAF4-CCPG11Jun 24, 2025
DNAAF52Jun 24, 2025
DNAH12Jun 24, 2025
DNAH113Jun 24, 2025
DNAH56Jun 24, 2025
DNAI12Jun 24, 2025
DNM12Jun 24, 2025
DNM1L1Jun 24, 2025
DNM22Mar 3, 2026
DNMT12Jan 12, 2026
DNMT3A3Dec 12, 2025
DOCK82Jun 24, 2025
DSG11Jun 24, 2025
DSP1Jun 24, 2025
DSPP3Jun 24, 2025
DUOX214Aug 13, 2026
DUOXA21Jan 9, 2026
DVL11Jun 24, 2025
DYNC1H16Jun 24, 2025
DYNC2H12Jun 24, 2025
DYRK1A4Jun 24, 2025
EBF32Jun 24, 2025
EBP2Jun 24, 2025
EEF1A23Jun 24, 2025
EFTUD22Jul 15, 2025
EHMT15Jun 24, 2025
EIF2B51Jun 24, 2025
EIF2S31Jun 24, 2025
EIF3F1Jun 24, 2025
ELAC22Jun 24, 2025
ENPP13Jan 12, 2026
EP3003Jun 24, 2025
EPG54Jun 24, 2025
EPHB41Jun 24, 2025
EPM2A1Jun 24, 2025
ERCC41Jan 9, 2026
ERCC67Jun 24, 2025
ERF1Jun 24, 2025
ERLIN11Jun 24, 2025
ESR11Jun 24, 2025
EXT11Jun 24, 2025
EYA11Jun 24, 2025
EYS3Apr 20, 2026
EZH21Jun 24, 2025
FA2H1Jun 24, 2025
FAM111A3Jun 24, 2025
FAM111B1Jun 24, 2025
FAM20C2Jan 12, 2026
FAN11Jun 24, 2025
FANCB1Jun 24, 2025
FANCE1Jan 12, 2026
FARS21Apr 20, 2026
FAT49Jun 24, 2025
FBN13Jan 9, 2026
FBN21Jun 24, 2025
FBXL53Jun 24, 2025
FBXO113Jul 27, 2026
FGD15Jun 24, 2025
FGF32Jun 24, 2025
FGFR11Jan 12, 2026
FGFR34Jan 9, 2026
FKRP2Jun 24, 2025
FLCN1Jun 24, 2025
FLG2Jul 3, 2025
FLNA8Jun 24, 2025
FLNB2Jun 24, 2025
FLNC4Jun 24, 2025
FLNC-AS11Jun 24, 2025
FLT42Jun 24, 2025
FMR12Jun 24, 2025
FOXE11Jan 12, 2026
FOXG12Jun 24, 2025
FOXP13Jun 24, 2025
FOXP21Jun 24, 2025
FRRS1L1Jun 24, 2025
FTSJ13Jun 24, 2025
GABRA11Jun 24, 2025
GABRA21Jun 24, 2025
GABRA51Jun 24, 2025
GABRB21Jun 24, 2025
GABRB31Jun 24, 2025
GABRG22Jun 24, 2025
GALC2Jun 24, 2025
GANAB4Jun 24, 2025
GAREM21Jun 24, 2025
GARS12Jun 24, 2025
GATA31Jun 24, 2025
GATA41Jun 24, 2025
GBA11Jun 24, 2025
GBE15Feb 10, 2026
GCH13Jun 24, 2025
GCM25Jul 27, 2026
GFAP1Jun 24, 2025
GFPT12Jun 24, 2025
GH-LCR3Jun 24, 2025
GHRHR1Mar 3, 2026
GJA11Jun 24, 2025
GJB12Mar 3, 2026
GJB28Jul 3, 2025
GJC21Jun 24, 2025
GLA1Jun 24, 2025
GLDC2Jun 24, 2025
GLI23Jun 24, 2025
GLI36Mar 3, 2026
GLIS31Jan 12, 2026
GMPPB1Jun 24, 2025
GNA113Feb 23, 2026
GNAI11Jun 24, 2025
GNAO12Jun 24, 2025
GNAS15Jul 27, 2026
GNAS-AS12Jul 27, 2026
GNB14Jun 24, 2025
GNRH11Jan 6, 2026
GNRHR1Jan 9, 2026
GPC32Jun 24, 2025
GPHN1Jun 24, 2025
GRIA31Jun 24, 2025
GRIA41Jun 24, 2025
GRIN13Jun 24, 2025
GRIN2A2Jun 24, 2025
GRIN2B5Jun 24, 2025
GRM11Jun 24, 2025
GRN2Mar 3, 2026
GUCY2D1Jun 24, 2025
HACE11Jun 24, 2025
HADHA1Jun 24, 2025
HBA-LCR1Jun 24, 2025
HBB1Jun 24, 2025
HCFC16Jun 24, 2025
HCN11Jun 24, 2025
HDAC45Jun 24, 2025
HDAC81Jun 24, 2025
HECW23Jun 24, 2025
HEPACAM1Jun 24, 2025
HERC12Jun 24, 2025
HEXA1Jun 24, 2025
HFE2Jun 24, 2025
HFE-AS11Jun 24, 2025
HIVEP25Jun 24, 2025
HMBS1Jun 24, 2025
HNF1B1Jun 24, 2025
HNRNPK1Jun 24, 2025
HNRNPUL2-BSCL23Jun 24, 2025
HOXA131Jun 24, 2025
HOXD132Jun 24, 2025
HRAS1Jun 24, 2025
HSALR11Jun 24, 2025
HSD17B42Jun 24, 2025
HSPD11Jun 24, 2025
HSPG24Jun 24, 2025
HTRA12Mar 3, 2026
HUWE16Jun 24, 2025
IDH22Jul 15, 2025
IFIH12Jun 24, 2025
IFT1402Jun 24, 2025
IFT1722Jun 24, 2025
IGSF11Jan 12, 2026
IL17RD1Jan 12, 2026
IMPG21Jun 24, 2025
INF21Jun 24, 2025
INPP5K3Jun 24, 2025
INSR3Jul 27, 2026
INTS12Jun 24, 2025
INVS2Jun 24, 2025
IQSEC22Jun 24, 2025
IRAK1BP16Mar 3, 2026
IRF2BPL4Jul 15, 2025
ITM2B1Jun 24, 2025
IVD1Jun 24, 2025
JAG11Jun 24, 2025
KANSL14Jun 24, 2025
KAT6A3Jun 24, 2025
KAT6B4Jun 24, 2025
KATNB12Jun 24, 2025
KCNA13Jun 24, 2025
KCNB13Jun 24, 2025
KCNC11Jun 24, 2025
KCNC33Mar 3, 2026
KCND32Jun 24, 2025
KCNH12Jun 24, 2025
KCNJ111Jun 24, 2025
KCNJ8-AS12Jun 24, 2025
KCNQ12Jun 24, 2025
KCNQ23Jan 12, 2026
KCNQ42Jun 24, 2025
KCNQ53Jul 15, 2025
KCNQ5-DT1Jul 15, 2025
KCNT16Jun 24, 2025
KCTD72Jun 24, 2025
KDM1A2Jun 24, 2025
KDM5B6Jun 24, 2025
KDM5C5Jun 24, 2025
KDM6A10Jun 24, 2025
KDM6B1Jun 24, 2025
KIDINS22010May 14, 2026
KIF112Jun 24, 2025
KIF1A3Jun 24, 2025
KIF222Jun 24, 2025
KIF5A3Jun 24, 2025
KIF5C2Jun 24, 2025
KIF74Jun 24, 2025
KIFBP2Jun 24, 2025
KIT1Jun 24, 2025
KLB1Jan 12, 2026
KLF9-DT1Jun 24, 2025
KMT2A6Jun 24, 2025
KMT2B1Jun 24, 2025
KMT2C4Jun 24, 2025
KMT2D13Jun 24, 2025
KYNU1Jun 24, 2025
L1CAM2Jun 24, 2025
LALTOP4Mar 3, 2026
LAMA13Jun 24, 2025
LAMA211Jun 24, 2025
LAMC33Jun 24, 2025
LAMP22Jun 24, 2025
LARGE11Apr 20, 2026
LARP74Jun 24, 2025
LDLR219Jul 27, 2026
LDLR-AS16Jul 27, 2026
LDLRAP122Jul 27, 2026
LEMD31Jun 24, 2025
LEP1Mar 3, 2026
LEPR5Jul 27, 2026
LHB1Jan 12, 2026
LHCGR2Jul 3, 2025
LHX31Jan 9, 2026
LIPE5Jan 9, 2026
LIPE-AS15Jan 9, 2026
LITAF1Jun 24, 2025
LMBR12Jun 24, 2025
LMNA3Mar 3, 2026
LOC1019270551Jun 24, 2025
LOC1019297106Mar 3, 2026
LOC1019300712Jan 9, 2026
LOC1027240582Jun 24, 2025
LOC1053710461Jun 24, 2025
LOC1053715663Jun 24, 2025
LOC1060990621Jun 24, 2025
LOC1065602115Jul 27, 2026
LOC1071262881Jun 24, 2025
LOC1071335101Jun 24, 2025
LOC1074575851Jun 24, 2025
LOC1075481121Jun 24, 2025
LOC1079880322Jun 24, 2025
LOC1082811771Jun 24, 2025
LOC1108062631Jun 24, 2025
LOC1125336721Jun 24, 2025
LOC1139399441Jan 9, 2026
LOC1153081612Jun 24, 2025
LOC1238640653Jun 24, 2025
LOC1246259201Jun 24, 2025
LOC1254677682Jun 24, 2025
LOC1268056031Jun 24, 2025
LOC1268056551Jun 24, 2025
LOC1268057931Jun 24, 2025
LOC1268061741Jun 24, 2025
LOC1268062641Jun 24, 2025
LOC1268064211Jun 24, 2025
LOC1268064241Jun 24, 2025
LOC1268064251Jun 24, 2025
LOC1268064321Jun 24, 2025
LOC1268064621Jun 24, 2025
LOC1268066302Jul 27, 2026
LOC1268066891Jan 12, 2026
LOC1268068781Jun 24, 2025
LOC1268596901Jun 24, 2025
LOC1268597121Jun 24, 2025
LOC1268602021Jun 24, 2025
LOC1268613651Jun 24, 2025
LOC1268618971Jun 24, 2025
LOC1268618981Jun 24, 2025
LOC1268624931Jun 24, 2025
LOC1268625718Jul 27, 2026
LOC1268626341Jun 24, 2025
LOC1268631601Jun 24, 2025
LOC1268632631Jun 24, 2025
LOC1299297732May 14, 2026
LOC1299313821Jun 24, 2025
LOC1299332801Jul 27, 2026
LOC1299343331Jan 12, 2026
LOC1299366651Jun 24, 2025
LOC1299375851Jun 24, 2025
LOC1299962451Jan 12, 2026
LOC1299967111Jul 15, 2025
LOC1299977311Jun 24, 2025
LOC1299997271Jun 24, 2025
LOC1300013342Jun 24, 2025
LOC1300092661Jun 24, 2025
LOC1300649721Jul 15, 2025
LOC1300654721Jun 24, 2025
LOC1300686212Jun 24, 2025
LOC1300687462Jun 24, 2025
LOX1Jun 24, 2025
LOXHD13Jun 24, 2025
LRP23Jun 24, 2025
LRP45Jun 24, 2025
LRP4-AS11Jun 24, 2025
LRP53Jun 24, 2025
LRPPRC2Jun 24, 2025
LRRC561Jun 24, 2025
LTBP31Jun 24, 2025
LZTR14Jun 24, 2025
MACF14Jul 15, 2025
MAFB1Jun 24, 2025
MAGEL27Jun 24, 2025
MAOA2Jun 24, 2025
MAP2K11Jun 24, 2025
MAPK8IP32Jun 24, 2025
MAPT1Mar 3, 2026
MAST12Jun 24, 2025
MBD54Jul 15, 2025
MBOAT72Jun 24, 2025
MBTPS26Jun 24, 2025
MC4R44Jul 7, 2026
MEA13Jun 24, 2025
MECOM1Jun 24, 2025
MECP25Jul 15, 2025
MED124Jun 24, 2025
MED13L8Jun 24, 2025
MEF2C1Jun 24, 2025
MEFV1Jun 24, 2025
MEIS21Jun 24, 2025
MEN19Jul 27, 2026
MFF-DT4Jun 24, 2025
MFN23Mar 3, 2026
MFSD81Jun 24, 2025
MHRT1Jun 24, 2025
MILR11Jun 24, 2025
MIR302CHG3Jun 24, 2025
MIR68861Jul 7, 2026
MITF1Jun 24, 2025
MKKS2Mar 3, 2026
MKS11Jan 12, 2026
MLH119Jul 27, 2026
MME1Jun 24, 2025
MMP131Jun 24, 2025
MMP21Jun 24, 2025
MMP211Jun 24, 2025
MOCS11Jun 24, 2025
MSH218Jul 27, 2026
MSH626Jul 27, 2026
MSL31Jun 24, 2025
MSTO12Jun 24, 2025
MT-ATP61Jun 24, 2025
MT-CO31Jun 24, 2025
MT-ND11Jun 24, 2025
MT-ND21Jun 24, 2025
MT-ND31Jun 24, 2025
MT-ND41Jun 24, 2025
MT-ND61Jun 24, 2025
MTO11Jun 24, 2025
MTOR5Jun 24, 2025
MTR1Jun 24, 2025
MTRR1Jun 24, 2025
MUC11Jun 24, 2025
MUTYH2Apr 17, 2026
MVP-DT1May 14, 2026
MYBPC11Jun 24, 2025
MYBPC37Jun 24, 2025
MYCN2Jun 24, 2025
MYCNOS1Jun 24, 2025
MYH112Jun 24, 2025
MYH142Jun 24, 2025
MYH21Jun 24, 2025
MYH31Jun 24, 2025
MYH63Jun 24, 2025
MYH75Jun 24, 2025
MYH83Jun 24, 2025
MYH91Jun 24, 2025
MYHAS4Jun 24, 2025
MYO15A9Jun 24, 2025
MYO18B2Jun 24, 2025
MYO5A3Jun 24, 2025
MYO61Jul 15, 2025
MYO7A6Jun 24, 2025
MYOT1Jun 24, 2025
MYT1L11Jul 7, 2026
NAA101Jun 24, 2025
NAA155Jun 24, 2025
NAGA3Jun 24, 2025
NALCN3Jun 24, 2025
NARS22Jun 24, 2025
NBAS2Jan 9, 2026
NBN1Jan 12, 2026
NDE12Jun 24, 2025
NDUFA12Jun 24, 2025
NDUFB111Jun 24, 2025
NEB10Jun 24, 2025
NEFH2Mar 3, 2026
NEXMIF2Jun 24, 2025
NF18Jul 15, 2025
NF21Jun 24, 2025
NFIA1Jun 24, 2025
NFIX1Jun 24, 2025
NGLY12Jun 24, 2025
NHS9Jun 24, 2025
NIPAL42Jun 24, 2025
NIPBL4Jun 24, 2025
NKX2-11Jun 9, 2026
NLGN34Jun 24, 2025
NLRC41Jun 24, 2025
NLRP31Jul 15, 2025
NMNAT12Jun 24, 2025
NONO1Jun 24, 2025
NOTCH11Jun 24, 2025
NOTCH21Jun 24, 2025
NOTCH39Jun 9, 2026
NPC14Jun 24, 2025
NPHP32Jun 24, 2025
NPHP3-ACAD114Jun 24, 2025
NPRL31Jun 24, 2025
NR0B11Jan 9, 2026
NR2F11Jun 24, 2025
NR2F1-AS11Jun 24, 2025
NRXN11Apr 20, 2026
NRXN21Jun 24, 2025
NSD12Jun 24, 2025
NSDHL4Jun 24, 2025
NSUN22Jun 24, 2025
NTHL13Jul 27, 2026
NTRK11Jun 24, 2025
NTRK26Jul 27, 2026
NUBPL1Jun 24, 2025
OBSL11Jan 12, 2026
OCA21Jun 24, 2025
OCRL5Jun 24, 2025
ODAD11Jun 24, 2025
ODC11Jun 24, 2025
OFD15Jun 24, 2025
OGT4Jun 24, 2025
OPA12Mar 3, 2026
OPHN11Jun 24, 2025
OTOA2Jun 24, 2025
OTOG2Jun 24, 2025
OTUD6B2Jun 24, 2025
OTX22Jan 12, 2026
P4HB1Jun 24, 2025
PACS13Jun 24, 2025
PACS23Jul 15, 2025
PAFAH1B12Jun 24, 2025
PAK34Jun 24, 2025
PALB219Jul 27, 2026
PAPSS21Jun 24, 2025
PARN2Jun 24, 2025
PAX62Jun 24, 2025
PAX84Mar 3, 2026
PAX8-AS12Mar 3, 2026
PCCB1Jun 24, 2025
PCDH122Jun 24, 2025
PCDH192Jun 24, 2025
PCGF21Jun 24, 2025
PCNT6Jun 24, 2025
PCSK16Mar 3, 2026
PCSK926Jul 27, 2026
PDE10A1Jun 24, 2025
PDE3A2Jun 24, 2025
PDE3A-AS12Jun 24, 2025
PDE3B1Jan 9, 2026
PDE4D1Jun 24, 2025
PDGFRB2Jun 24, 2025
PDHA11Jun 24, 2025
PDZD72Jun 24, 2025
PGAP21Jun 24, 2025
PGK14Jun 24, 2025
PHEX12Apr 17, 2026
PHF63Jul 7, 2026
PHF81Jun 24, 2025
PHIP12Mar 3, 2026
PHKA11Jun 24, 2025
PHKA22Jun 24, 2025
PHKB2Jun 24, 2025
PHYH2Jun 24, 2025
PIEZO11Jun 24, 2025
PIEZO22Jun 24, 2025
PIGL1Jun 24, 2025
PIK3R11Jun 24, 2025
PIK3R21Jun 24, 2025
PITX12Jun 24, 2025
PITX1-AS11Jun 24, 2025
PITX21Jun 24, 2025
PKD130Jun 24, 2025
PKD1-AS14Jun 24, 2025
PKD28Jun 24, 2025
PKD2L2-DT1Jun 24, 2025
PKHD112Jun 24, 2025
PKLR2Jun 24, 2025
PKP22Jun 24, 2025
PLA2G61Mar 3, 2026
PLEC2Jun 24, 2025
PLEKHG51Mar 3, 2026
PLS11Jun 24, 2025
PLXNA31Jan 6, 2026
PLXNB3-AS11Jun 24, 2025
PMS212Jul 27, 2026
PNKD1Jun 24, 2025
PNKP2Jun 24, 2025
PNPT12Jun 24, 2025
POGZ4Jun 24, 2025
POLA12Jun 24, 2025
POLD13Jun 9, 2026
POLE3Jul 27, 2026
POLG7Jun 24, 2025
POLG21Jun 24, 2025
POLGARF6Jun 24, 2025
POLR1A1Jun 24, 2025
POLR2F2Jun 24, 2025
POLR3A3Jun 24, 2025
POLR3B2Jun 24, 2025
POMC5Jul 27, 2026
PORCN1Jun 24, 2025
POU3F31Jun 24, 2025
POU3F41Jun 24, 2025
POU4F31Jun 24, 2025
PPARG2Jan 9, 2026
PPP1CB2Jun 24, 2025
PPP2R1A1Jun 24, 2025
PPP2R5D3Jun 24, 2025
PQBP12Jun 24, 2025
PRAF21Jun 24, 2025
PREPL1Jun 24, 2025
PRKAR1A2Jan 12, 2026
PRKAR1B1Jun 24, 2025
PRKCG1Jun 24, 2025
PRKCSH1Jun 24, 2025
PRKD11Jun 24, 2025
PRKG11Apr 20, 2026
PROM12Jun 24, 2025
PROP12Mar 3, 2026
PRPF311Jun 24, 2025
PRRT21May 14, 2026
PSEN11Mar 3, 2026
PSMD122Jun 24, 2025
PTCH14Jun 24, 2025
PTCHD1-AS4Mar 19, 2026
PTEN1Jun 24, 2025
PTH1R3Jun 24, 2025
PTPN117Mar 3, 2026
PUF603Jun 24, 2025
PURA2Jun 24, 2025
PYGM1Jun 24, 2025
RAD213Jun 24, 2025
RAD51C6Jul 27, 2026
RAD51D2Jun 24, 2025
RAD51L3-RFFL2Jun 24, 2025
RAI17Jun 24, 2025
RANBP22Jun 24, 2025
RARB1Jun 24, 2025
RAX21Jun 24, 2025
RBM101Jun 24, 2025
RBM201Jun 24, 2025
RBM27-POU4F31Jun 24, 2025
RECQL42Jun 24, 2025
REEP11Jun 24, 2025
RELN2Jun 24, 2025
REN1Jun 24, 2025
RERE2Jul 15, 2025
RET11May 14, 2026
RIF12Jun 24, 2025
RLIM1Jun 24, 2025
RNASEH2B2Jun 24, 2025
RNF1251Jun 24, 2025
RNF142Jun 24, 2025
RNF432Jul 27, 2026
ROBO33Jun 24, 2025
ROR23Jun 24, 2025
RORA1Jun 24, 2025
RP11Jun 24, 2025
RP1L12Jun 24, 2025
RPL101Jun 24, 2025
RPL36A-HNRNPH21Jun 24, 2025
RPL51Jun 24, 2025
RTEL14Jun 24, 2025
RTEL1-TNFRSF6B4Jun 24, 2025
RYR114Jun 24, 2025
RYR21Jun 24, 2025
SACS8Jun 24, 2025
SALL12Jun 24, 2025
SAMD93Jun 24, 2025
SATB22Jun 24, 2025
SBDS2Jun 24, 2025
SCN11A2Jun 24, 2025
SCN1A5Jun 24, 2025
SCN1A-AS11Jun 24, 2025
SCN2A7Jun 24, 2025
SCN4A3Jun 24, 2025
SCN5A1Jun 24, 2025
SCN8A5Jun 24, 2025
SCN9A1Jun 24, 2025
SDCCAG81Mar 3, 2026
SDHA7May 14, 2026
SDHB3May 14, 2026
SDHC1Apr 17, 2026
SDHD2Mar 19, 2026
SEC23B2Jun 24, 2025
SEC633Jun 24, 2025
SELENON1Jun 24, 2025
SEMA4A1Jun 24, 2025
SEPTIN91Jun 24, 2025
SETBP12Jun 24, 2025
SETD26Jun 24, 2025
SETD53Jun 24, 2025
SETX3Jun 24, 2025
SF3B42Jun 24, 2025
SFTA31Jun 9, 2026
SGCA1Jun 24, 2025
SGSH4Jun 24, 2025
SH3BP22Jun 24, 2025
SHANK15Jun 24, 2025
SHANK25Jun 24, 2025
SHANK37Jun 24, 2025
SHH1Jun 24, 2025
SIM14Mar 3, 2026
SIM1-AS11Feb 23, 2026
SIN3A1Jun 24, 2025
SIX31Jun 24, 2025
SKI3Jun 24, 2025
SLA1Jul 27, 2026
SLC12A32Jun 24, 2025
SLC12A51Jun 24, 2025
SLC13A51Jun 24, 2025
SLC16A21Jun 24, 2025
SLC1A31Jun 24, 2025
SLC1A3-AS11Jun 24, 2025
SLC25A461Jun 24, 2025
SLC26A45May 14, 2026
SLC26A4-AS11Jun 24, 2025
SLC26A71Jan 9, 2026
SLC2A14Jan 12, 2026
SLC34A34Jan 9, 2026
SLC35A21Jun 24, 2025
SLC35C11Jun 24, 2025
SLC39A142Jun 24, 2025
SLC3A13Jun 24, 2025
SLC52A22Jun 24, 2025
SLC6A11Jun 24, 2025
SLC6A191Jun 24, 2025
SLC6A202Jun 24, 2025
SLC6A32Jun 24, 2025
SLC6A84Jun 24, 2025
SLC9A63Jun 24, 2025
SLX42Jun 24, 2025
SMAD31Jun 24, 2025
SMAD42Jun 24, 2025
SMARCA23Jul 15, 2025
SMARCA45Jun 24, 2025
SMARCB11Jun 24, 2025
SMARCC21Jun 24, 2025
SMC1A3Jun 24, 2025
SMC33Jun 24, 2025
SMO1Jun 24, 2025
SMPD12Jun 24, 2025
SMS1Jun 24, 2025
SNHG145Jun 24, 2025
SNRNP2001Jun 24, 2025
SON5Jun 24, 2025
SOS13Jun 24, 2025
SOS21Jun 24, 2025
SOX102Jun 24, 2025
SOX111Jun 24, 2025
SOX21Jun 24, 2025
SOX2-OT1Jun 24, 2025
SOX31Jun 24, 2025
SOX51Jun 24, 2025
SOX61Jun 24, 2025
SOX91Jun 24, 2025
SPAST1Jun 24, 2025
SPECC1L3Jun 24, 2025
SPECC1L-ADORA2A3Jun 24, 2025
SPEG1Jun 24, 2025
SPG114Jun 24, 2025
SPG73Jun 22, 2026
SPRED11Jun 24, 2025
SPTAN18Jun 24, 2025
SPTBN23Jun 24, 2025
SPTLC21Mar 3, 2026
SRCAP9Jan 9, 2026
SRD5A31Jun 24, 2025
SRFBP11Jun 24, 2025
SRPX21Jun 24, 2025
STAG11Jun 24, 2025
STAG21Jun 24, 2025
STK112Jun 24, 2025
STN12Jun 24, 2025
STON1-GTF2A1L2Jul 3, 2025
STXBP13Jun 24, 2025
SYNE124Jun 24, 2025
SYNGAP13Jun 24, 2025
SYNGAP1-AS12Jun 24, 2025
SYNJ11Jun 24, 2025
SYP1Jun 24, 2025
TAC31Apr 17, 2026
TAF12Jun 24, 2025
TAF62Jun 24, 2025
TARDBP1Jun 24, 2025
TBCD2Jun 24, 2025
TBCEL-TECTA3Jun 24, 2025
TBL1X3Mar 3, 2026
TBL1XR13Jun 24, 2025
TBL1XR1-AS11Jun 24, 2025
TBX181Jun 24, 2025
TBXAS11Jun 24, 2025
TCF121Jun 24, 2025
TCF42Jun 24, 2025
TCF4-AS11Jun 24, 2025
TCOF13Jun 24, 2025
TECPR22Jun 24, 2025
TECTA3Jun 24, 2025
TERT5Jun 24, 2025
TG13Jul 27, 2026
TGFB21Jun 24, 2025
TGFB34Jun 24, 2025
TGFBR13Jun 24, 2025
TGFBR21Jun 24, 2025
TH2Jun 24, 2025
THAP11Jun 24, 2025
THOC22Jun 24, 2025
THOC67Jun 24, 2025
THRB11Jul 27, 2026
TLK21Jun 24, 2025
TMEM1271Jan 12, 2026
TMEM2401Jun 24, 2025
TMEM672Jun 24, 2025
TMEM702Jun 24, 2025
TMPRSS31Jun 24, 2025
TNFRSF11A1Jun 24, 2025
TOGARAM12Jun 24, 2025
TOR1A1Jun 24, 2025
TP531Jun 24, 2025
TP631Jun 24, 2025
TPM11Jun 24, 2025
TPO9Mar 3, 2026
TRAPPC2L1Jun 24, 2025
TREX11Jun 24, 2025
TRHR1Jan 12, 2026
TRIO7Jun 24, 2025
TRIP122Jun 24, 2025
TRMT51Jun 24, 2025
TRPM13Jun 24, 2025
TRPM31Jun 24, 2025
TRPV43Jun 24, 2025
TSC125Jul 27, 2026
TSC244Jun 9, 2026
TSHR7Apr 17, 2026
TSHR-AS17Apr 17, 2026
TTBK21Jun 24, 2025
TTN61Jun 24, 2025
TTN-AS130Jun 24, 2025
TTR4Jan 12, 2026
TUBA1A2Jun 24, 2025
TUBB31Jun 24, 2025
TUBB4A3Jun 24, 2025
TUBGCP61Jun 24, 2025
UBA52Jun 24, 2025
UBAP11Jun 24, 2025
UBE2A1Jun 24, 2025
UBE3A5Jun 24, 2025
UBE3B2Jun 24, 2025
UBR12Jun 24, 2025
UBTF1Jun 24, 2025
UMOD4Jun 24, 2025
UNC13D2Jun 24, 2025
UNC803Jun 24, 2025
USH2A2Jun 24, 2025
USP9X7Jun 24, 2025
VCAN1May 24, 2024
VCAN-AS11May 24, 2024
VCP1Mar 3, 2026
VDR1Mar 3, 2026
VEGFC1Jun 24, 2025
VLDLR2Jun 24, 2025
VPS13B12Mar 3, 2026
WAC5Jun 24, 2025
WASF12Jun 24, 2025
WASHC52Jun 24, 2025
WDPCP1Apr 20, 2026
WDR111Jan 6, 2026
WDR262Jun 24, 2025
WDR371Jun 24, 2025
WDR451Jun 24, 2025
WDR813Jun 24, 2025
WFS14Jun 24, 2025
WNT10A1Jun 24, 2025
YARS21Jun 24, 2025
YY11Jun 24, 2025
ZBTB181Jun 24, 2025
ZBTB201Jun 24, 2025
ZC4H21Jun 24, 2025
ZDHHC242Mar 3, 2026
ZEB22Jun 24, 2025
ZFYVE261Jun 24, 2025
ZMIZ11Jun 24, 2025
ZMYND111Jun 24, 2025
ZSWIM61Jun 24, 2025

Condition

NameSubmissionsLast Updated
APC associated polyposis2Apr 17, 2026
Adult onset neurodegenerative disorder7Mar 3, 2026
Agammaglobulinemia1Jun 24, 2025
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis5Jan 12, 2026
Amyotrophic lateral sclerosis1Jun 24, 2025
Anemia1Jun 24, 2025
Arrhythmogenic right ventricular cardiomyopathy1Jun 24, 2025
Arthrogryposis syndrome12Jun 24, 2025
Atopic eczema1Jun 24, 2025
Autosomal dominant nonsyndromic hearing loss4Jun 24, 2025
Autosomal recessive congenital ichthyosis11Jul 3, 2025
Autosomal recessive disease6Jul 3, 2025
Bardet-Biedl syndrome4Jun 24, 2025
Beckwith-Wiedemann syndrome3May 14, 2026
Benign familial hematuria9Jun 24, 2025
Biliary tract abnormality19Jun 24, 2025
Blepharospasm-oromandibular dystonia syndrome1Jun 24, 2025
Brain disorder2Jun 24, 2025
Cancer or benign tumor13Jun 24, 2025
Cataract3Apr 20, 2026
Catecholaminergic polymorphic ventricular tachycardia2Jun 24, 2025
Cerebral arterial disease4Jun 24, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 16Aug 11, 2026
Charcot-Marie-Tooth disease15Jun 24, 2025
Childhood neoplasm8Jun 24, 2025
Cleft lip/palate12Jul 15, 2025
Cleft palate31Apr 20, 2026
Coffin-Siris syndrome2Jun 24, 2025
Combined immunodeficiency1Jun 24, 2025
Cone-rod dystrophy34Apr 20, 2026
Congenital anemia4Jun 24, 2025
Congenital anomaly of kidney and urinary tract18Jun 24, 2025
Congenital cerebellar hypoplasia16Apr 20, 2026
Congenital chromosomal disease2Jun 24, 2025
Congenital heart disease33Apr 20, 2026
Congenital hypothyroidism56Aug 13, 2026
Congenital limb malformation1Jun 24, 2025
Congenital muscular dystrophy2Jun 24, 2025
Congenital myopathy32Jun 24, 2025
Congenital ocular coloboma9Jun 24, 2025
Conotruncal heart malformations4Jun 24, 2025
Corneal disorder1Jun 24, 2025
Craniosynostosis syndrome19Jun 24, 2025
Cystic fibrosis1Feb 2, 2024
Cystic fibrosis diagnostic test1Jan 12, 2026
Dementia4Feb 10, 2026
Developmental defect during embryogenesis2Jun 24, 2025
Differences in sex development4Jun 9, 2026
Disorder of development or morphogenesis5Jun 24, 2025
Disorder of eye1Jun 24, 2025
Disorder of sexual differentiation2Jul 3, 2025
Distal myopathy24Jun 24, 2025
Duchenne or Becker muscular dystrophy2Aug 11, 2026
Dystonia, early-onset, and/or spastic paraplegia28Jun 24, 2025
Ear malformation4Jun 24, 2025
Early onset severe obesity126Jul 27, 2026
Ectodermal dysplasia2Jun 24, 2025
Ehlers-Danlos syndrome11Jun 24, 2025
Endocrine pancreas disorder1Jun 24, 2025
Epidermal disease1Jun 24, 2025
Epilepsy42May 5, 2026
Familial hypercholesterolemia402Aug 11, 2026
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia46Aug 11, 2026
Familial hypoparathyroidism7Aug 11, 2026
Familial thoracic aortic aneurysm and aortic dissection25Apr 20, 2026
Focal epilepsy1Jun 24, 2025
Genetic developmental and epileptic encephalopathy34Apr 20, 2026
Growth failure in early childhood9Jan 9, 2026
Hearing impairment47Jul 3, 2025
Hereditary ataxia79Apr 20, 2026
Hereditary breast ovarian cancer syndrome5Jul 3, 2025
Hereditary macular dystrophy2Jun 24, 2025
Hereditary motor neuron disease1Jun 24, 2025
Hereditary neuropathy or pain disorder9Mar 3, 2026
Hereditary optic neuropathy2Jun 24, 2025
Hereditary skeletal muscle disorder14Jun 24, 2025
Hereditary skin disorder3Jun 24, 2025
Hereditary spastic paraplegia13Jun 24, 2025
Hereditary spastic paraplegia 71Jun 22, 2026
Hyperthyroidism17Jul 27, 2026
Hyperthyroidism, Congenital hypothyroidism1Mar 3, 2026
Hyperthyroxinemia, dystransthyretinemic1Apr 9, 2024
Hypertrophic cardiomyopathy23Apr 20, 2026
Hypogonadotropic hypogonadism12Jul 27, 2026
Hypoparathyroidism4Dec 12, 2025
Hypophosphataemia or rickets39Aug 11, 2026
Inherited MMR deficiency (Lynch syndrome)43Jul 27, 2026
Inherited breast cancer and ovarian cancer130Aug 11, 2026
Inherited ovarian cancer (without breast cancer)57Aug 11, 2026
Inherited phaeochromocytoma and paraganglioma excluding NF19May 14, 2026
Inherited polyposis and early onset colorectal cancer - germline testing28Jul 27, 2026
Inherited prostate cancer20Aug 11, 2026
Intellectual disability897May 5, 2026
Intestinal polyposis syndrome2Jun 24, 2025
Isolated anophthalmia-microphthalmia syndrome2Jun 24, 2025
Joubert syndrome4Jun 24, 2025
Kabuki syndrome2Jun 24, 2025
Kidney disorder6Jun 24, 2025
Kidney failure21Apr 20, 2026
Left ventricular noncompaction9Jun 24, 2025
Leukodystrophy2Jun 24, 2025
Leukodystrophy, Adult-Onset4Mar 3, 2026
Limb-girdle muscular dystrophy77Apr 20, 2026
Lipodystrophy - childhood onset15Jul 27, 2026
Long QT syndrome2Jun 24, 2025
Lymphedema12Jun 24, 2025
Lynch syndrome 41May 1, 2026
Macular degeneration1Jun 24, 2025
Malignant neoplasm of nervous system2Jun 24, 2025
Metabolic disease5Jun 24, 2025
Microcephaly5Jun 24, 2025
Mitochondrial disease9Jun 24, 2025
Monogenic short stature7Aug 11, 2026
Morphological central nervous system abnormality2Jun 24, 2025
Multiple congenital anomalies/dysmorphic syndrome22Jun 24, 2025
Multiple endocrine neoplasia, type 23May 14, 2026
Multiple epiphyseal dysplasia2Jun 24, 2025
NICE approved PARP inhibitor treatment1Jun 17, 2024
Neoplasm of the endocrine system6Jul 27, 2026
Neurocutaneous syndrome1Jun 24, 2025
Neuroendocrine neoplasm2Jun 24, 2025
Neurofibromatosis, type 112Jun 24, 2025
Neuromuscular disease2Apr 20, 2026
Noonan syndrome6Jun 24, 2025
Obesity20Apr 20, 2026
Osteogenesis imperfecta12Jul 11, 2025
Pancytopenia1Jun 24, 2025
Parkinsonian disorder4Jun 24, 2025
Paroxysmal central nervous system disorders8May 14, 2026
Periodic fever syndrome1Jun 24, 2025
Pituitary hormone deficiency6Mar 3, 2026
Primary ciliary dyskinesia20Jun 24, 2025
Primary dilated cardiomyopathy14Apr 20, 2026
Primary membranoproliferative glomerulonephritis1Jun 24, 2025
Proteinuria5Jun 24, 2025
Pulmonary fibrosis9Jun 24, 2025
Renal cyst38Jun 24, 2025
Renal tubular acidosis2Jun 24, 2025
Rhombencephalosynapsis1Jun 24, 2025
Russell-Silver syndrome4Jun 24, 2025
Schizophrenia2Jun 24, 2025
See cases2Apr 20, 2026
Severe early-childhood-onset retinal dystrophy7Jun 24, 2025
Severe early-onset obesity, Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis1Mar 3, 2026
Skeletal dysplasia26Apr 20, 2026
Skeletal myopathy1Jun 24, 2025
Sotos syndrome1Jun 24, 2025
Stickler syndrome42Aug 11, 2026
Tuberous sclerosis syndrome58Aug 11, 2026
Type 2 diabetes mellitus3Jun 24, 2025
VATER association12Jun 24, 2025
Vascular disorder16May 5, 2026
Weaver syndrome2Jun 24, 2025
Young-onset Parkinson disease5Jun 24, 2025