Centre for Genomic Medicine, Manchester (Central Manchester University Hospitals), MCGM

General information

Centre for Genomic Medicine, Manchester, MCGM
Central Manchester University Hospitals
Manchester
Greater Manchester
United Kingdom

Organization ID: 505642

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 325

Gene

GeneSubmissionsLast Updated
ABCA416Apr 26, 2016
ADGRV17Aug 29, 2019
BBS14Aug 29, 2019
BBS121Aug 29, 2019
BBS21Aug 29, 2019
BBS41Apr 26, 2016
BBS51Aug 29, 2019
BBS72Aug 29, 2019
BCOR1Dec 12, 2016
BEST11Dec 12, 2016
BLOC1S1-RDH51Apr 26, 2016
CDH232Apr 26, 2016
CDHR11Apr 26, 2016
CDKL51Jan 21, 2016
CEP2909Aug 29, 2019
CERKL3Dec 12, 2016
CHM1Dec 12, 2016
CLRN14Aug 29, 2019
CLRN1-AS11Aug 29, 2019
CNGA13Apr 26, 2016
CNGA34Aug 29, 2019
CNGB16Apr 26, 2016
CNGB31Dec 12, 2016
CRB110Apr 26, 2016
CRX3Apr 26, 2016
EYS8Aug 29, 2019
FAM161A1Apr 26, 2016
FAM20A1Aug 29, 2019
FZD42Aug 29, 2019
GNAT21Aug 29, 2019
GPHN4Apr 26, 2016
GUCY2D2Apr 26, 2016
IFT1401Aug 29, 2019
IMPG23Apr 26, 2016
IQCB11Aug 29, 2019
KCNV21Dec 12, 2016
KIF111Aug 29, 2019
LCA51Apr 26, 2016
LOC1019271573Apr 26, 2016
LOC1053710461Aug 29, 2019
LOC1119828691Apr 26, 2016
LRAT1Apr 26, 2016
LRP52Apr 26, 2016
MERTK6Dec 12, 2016
MVK3Aug 29, 2019
MYO7A10Aug 29, 2019
NMNAT11Dec 12, 2016
NPHP42Aug 29, 2019
NR2E31Apr 26, 2016
NRL1Apr 26, 2016
OTX21Aug 29, 2019
PCDH156Aug 29, 2019
PDE6A2Apr 26, 2016
PDE6B3Apr 26, 2016
PDE6C2Apr 26, 2016
PEX11B1Dec 12, 2016
PHF32Aug 29, 2019
PRKAR1A1Aug 29, 2019
PROM111Aug 29, 2019
PRPF31Aug 29, 2019
PRPF318Apr 26, 2016
PRPF83Apr 26, 2016
PRSS232Aug 29, 2019
PTS1Dec 12, 2016
RBP32Jan 21, 2016
RDH124Apr 26, 2016
RDH51Apr 26, 2016
RHO67Oct 28, 2020
RP17Apr 26, 2016
RP22Apr 26, 2016
RPE651Apr 26, 2016
RPGR4Apr 26, 2016
RPGRIP16Dec 12, 2016
RS11Jan 21, 2016
SNRNP2002Apr 26, 2016
SPATA72Apr 26, 2016
TOPORS1Jan 21, 2016
TRPM13Aug 29, 2019
USH1C1Apr 26, 2016
USH1G1Aug 29, 2019
USH2A41Aug 29, 2019
USH2A-AS16Aug 29, 2019
USH2A-AS22Aug 29, 2019
VPS13B6Aug 29, 2019
WHRN2Apr 26, 2016
ZDHHC244Aug 29, 2019
ZFYVE262Apr 26, 2016

Condition

NameSubmissionsLast Updated
Achromatopsia 21Aug 29, 2019
Achromatopsia 41Aug 29, 2019
Acrodysostosis 1 with or without hormone resistance1Aug 29, 2019
Atrophia bulborum hereditaria1Aug 29, 2019
Bardet-Biedl syndrome 13Aug 29, 2019
Bardet-Biedl syndrome 121Aug 29, 2019
Bardet-Biedl syndrome 21Aug 29, 2019
Bardet-Biedl syndrome 51Aug 29, 2019
Bardet-Biedl syndrome 71Aug 29, 2019
Bull's eye maculopathy2Jan 21, 2016
Cohen syndrome4Aug 29, 2019
Cone dystrophy 31Oct 28, 2020
Congenital cataract2Dec 12, 2016
Congenital stationary night blindness, autosomal dominant 12Oct 28, 2020
Congenital stationary night blindness, type 1C3Aug 29, 2019
Hyperimmunoglobulin D with periodic fever2Aug 29, 2019
Joubert syndrome 51Aug 29, 2019
Leber congenital amaurosis1Jan 21, 2016
Metabolic disease1Dec 12, 2016
Mevalonic aciduria1Aug 29, 2019
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Aug 29, 2019
Occult macular dystrophy1Oct 28, 2020
Retinal dystrophy174Dec 12, 2016
Retinitis pigmentosa 181Aug 29, 2019
Retinitis pigmentosa 192Jan 21, 2016
Retinitis pigmentosa 252Aug 29, 2019
Retinitis pigmentosa 381Jan 21, 2016
Retinitis pigmentosa 462Oct 28, 2020
Retinitis pigmentosa 402Jan 21, 2016
Retinitis pigmentosa 411Aug 29, 2019
Saldino-Mainzer syndrome1Aug 29, 2019
Senior-Loken syndrome 42Aug 29, 2019
Senior-Loken syndrome 51Aug 29, 2019
Senior-Loken syndrome 63Aug 29, 2019
Stargardt disease 13Oct 28, 2020
Syndromic microphthalmia type 51Aug 29, 2019
Usher Syndrome, Type III3Aug 29, 2019
Usher syndrome type 14Aug 29, 2019
Usher syndrome type 1D3Aug 29, 2019
Usher syndrome, type 1G1Aug 29, 2019
Usher syndrome, type 2A20Aug 29, 2019
Usher syndrome, type 2C6Aug 29, 2019
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