LOVD - Current system status

2015/08/28 06:50:11 CEST - Friday, August 28th 2015

Gene symbol Gene name Total variants Unique variants Patients
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 348 348 1
ABHD12 abhydrolase domain containing 12 38 4 19
ACBD5 acyl-CoA binding domain containing 5 2 1 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 11 8 4
ADAMTSL4 ADAM metallopeptidase with thrombospondin type 1 motif, like 4 68 15 22
BBS1 Bardet-Biedl syndrome 1 2 1 1
BBS9 Bardet-Biedl syndrome 9 2 1 1
BFSP1 Beaded filament structural protein 1 2 2 2
C21orf2 chromosome 21 open reading frame 2 2 1 1
CDHR1 Cadherin-related family member 1 2 1 1
CERKL ceramide kinase-like 2 1 1
CNNM4 cyclin M4 2 1 1
CRYAB Crystallin, alpha-B 0 0 0
DHDDS dehydrodolichyl diphosphate synthase 0 0 0
DTHD1 Death domain containing 1 2 1 1
ELOVL4 ELOVL fatty acid elongase 4 0 0 0
EMC1 ER membrane protein complex subunit 1 2 1 1
EYS Eyes shut homolog (Drosophila) 0 0 0
FAM161A family with sequence similarity 161, member A 23 15 19
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 0 0 0
FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 0 0 0
GCNT2 glucosaminyl (N-acetyl) transferase 2 1 1 1
GJA3 Gap junction protein, alpha 3 1 1 1
GJA8 Gap junction protein, alpha 8 11 10 11
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 0 0 0
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 0 0 0
GPR125 G protein-coupled receptor 125 2 1 1
GPR179 G protein-coupled receptor 179 6 5 5
GRK1 G protein-coupled receptor kinase 1 0 0 0
GRM6 Glutamate receptor, metabotropic 6 2 1 1
GUCA1A Guanylate cyclase activator 1A (retina) 0 0 0
GUCA1B Guanylate cyclase activator 1B (retina) 0 0 0
GUCY2D Guanylate cyclase 2D, membrane (retina-specific) 0 0 0
HSF4 Heat shock transcription factor 4 9 9 9
IDH3B isocitrate dehydrogenase 3 (NAD+) beta 0 0 0
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 0 0 0
IMPG2 Interphotoreceptor matrix proteoglycan 2 0 0 0
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 0 0 0
INVS Inversin 0 0 0
KCNV2 potassium channel, subfamily V, member 2 0 0 0
KIAA1549 KIAA1549 2 1 1
KLHL7 kelch-like 7 (Drosophila) 0 0 0
LCA5 Leber congenital amaurosis 5 492 32 251
LIM2 Lens intrinsic membrane protein 2 0 0 0
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 0 0 0
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 0 0 0
LRP5 low density lipoprotein receptor-related protein 5 0 0 0
LZTFL1 leucine zipper transcription factor-like 1 0 0 0
MAF Musculoaponeurotic fibrosarcoma oncogene homolog (avian) 0 0 0
MAK male germ cell-associated kinase 0 0 0
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0 0 0
MERTK c-mer proto-oncogene tyrosine kinase 6 1 3
MFRP membrane frizzled-related protein 0 0 0
MKKS McKusick-Kaufman syndrome 6 2 3
MYOC Myocilin 119 8 114
NEK8 NIMA (never in mitosis gene a)- related kinase 8 0 0 0
NPHP1 nephronophthisis 1 (juvenile) 0 0 0
NPHP3 Nephronophthisis 3 (adolescent) 0 0 0
NPHP4 Nephronophthisis 4 0 0 0
NRL Neural retina leucine zipper 0 0 0
NYX Nyctalopin 0 0 0
OAT Ornithine aminotransferase 158 67 88
OPA1 optic atrophy 1 (autosomal dominant) 0 0 0
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 3 1 2
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0 0 0
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0 0 0
OPN1SW opsin 1 (cone pigments), short-wave-sensitive 0 0 0
PANK2 pantothenate kinase 2 0 0 0
PDC phosducin 0 0 0
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0 0 0
PDE6B Phosphodiesterase 6B, cGMP-specific, rod, beta 0 0 0
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0 0 0
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 0 0 0
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 0 0 0
PEX1 peroxisomal biogenesis factor 1 0 0 0
PEX2 peroxisomal biogenesis factor 2 0 0 0
PEX7 peroxisomal biogenesis factor 7 0 0 0
PHYH phytanoyl-CoA 2-hydroxylase 0 0 0
PITPNM3 PITPNM family member 3 2 1 2
PITX3 Paired-like homeodomain 3 0 0 0
PLA2G5 phospholipase A2, group V 0 0 0
PRCD progressive rod-cone degeneration 0 0 0
PRKCG protein kinase C, gamma 0 0 0
PROM1 Prominin 1 0 0 0
PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) 0 0 0
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 0 0 0
PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) 0 0 0
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 0 0 0
PRPH2 Peripherin 2 (retinal degeneration, slow) 0 0 0
RAX2 retina and anterior neural fold homeobox 2 0 0 0
RBP3 retinol binding protein 3, interstitial 2 1 1
RD3 retinal degeneration 3 0 0 0
RDH12 Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 0 0 0
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 220 42 110
RGR Retinal G protein coupled receptor 0 0 0
RGS9 regulator of G-protein signaling 9 0 0 0
RGS9BP regulator of G protein signaling 9 binding protein 0 0 0
RHO Rhodopsin 0 0 0
RIMS1 Regulating synaptic membrane exocytosis 1 0 0 0
RLBP1 Retinaldehyde binding protein 1 2 1 1
ROM1 retinal outer segment membrane protein 1 0 0 0
RP1 Retinitis pigmentosa 1 (autosomal dominant) 0 0 0
RP1L1 retinitis pigmentosa 1-like 1 0 0 0
RP2 Retinitis pigmentosa 2 (X-linked recessive) 0 0 0
RP9 Retinitis pigmentosa 9 (autosomal dominant) 0 0 0
RPE65 Retinal pigment epithelium-specific protein 65kDa 0 0 0
RPGR Retinitis pigmentosa GTPase regulator 0 0 0
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0 0 0
RPGRIP1L RPGRIP1-like 0 0 0
RS1 Retinoschisis 1 (X-linked, juveline) 995 196 977
SAG S-antigen; retina and pineal gland (arrestin) 0 0 0
SDCCAG8 serologically defined colon cancer antigen 8 0 0 0
SEMA4A Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 0 0 0
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 0 0 0
SNRNP200 Small nuclear ribonucleoprotein 200kDa (U5) 0 0 0
SPATA7 Spermatogenesis associated 7 0 0 0
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 0 0 0
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0 0 0
TIMP3 TIMP metallopeptidase inhibitor 3 0 0 0
TMEM114 Transmembrane protein 114 0 0 0
TMEM126A Transmembrane protein 126A 5 3 1
TMEM237 transmembrane protein 237 0 0 0
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 0 0 0
TTC8 tetratricopeptide repeat domain 8 95 28 68
TULP1 tubby like protein 1 263 43 134
VIM Vimentin 2 1 2
VSX1 Visual system homeobox 1 2 2 1
  Total of 127 gene entries 2914 859 1864