Leber Congenital Amaurosis
|
Gene Symbol |
Aliases |
Full Gene Name |
Chr |
Disorder |
Mode of Inheritance |
OMIM |
HGNC ID |
| AIPL1 | LCA4 | aryl-hydrocarbon-interacting protein-like 1 | 17p13.2 | Leber Congenital Amaurosis, Cone Rod Dystrophy, Retinitis Pigmentosa | autosomal recessive | 604392 | HGNC:359 |
| CRB1 | LCA8; RP12 | crumbs homolog 1 | 1q31.3 | Leber Congenital Amaurosis 8, Retinitis Pigmentosa 12 | autosomal recessive | 604210 | HGNC:2343 |
| GUCY2D | CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RETGC-1; ROS-GC1; ROSGC; retGC | guanylate cyclase 2D, membrane (retina-specific) | 17p13.1 | Leber Congenital Amaurosis 1, Cone Rod Dystrophy 6 | autosomal recessive | 600179 | HGNC: 4689 |
| RPE65 | LCA2; RP20; rd12; mRPE65; sRPE65 | retinal pigment epithelium-specific protein 65kDa | 1q31.2 | Leber Congenital Amaurosis 2, Retinitis Pigmentosa | autosomal recessive | 180069 | HGNC:10294 |
| CRX | LCA7; CORD2; CRD; OTX3 | cone-rod homebox | 19q13.32 | Leber Congenital Amaurosis, Cone Rod Dystrophy, Retinitis Pigmentosa | autosomal dominant | 602225 | HGNC:2383 |
| RPGRIP1 | LCA6; RGI1 | Retinitis Pigmentosa GTPase regulator-interacting protein | 14q11.2 | Leber Congenital Amaurosis, Cone Rod Dystrophy | autosomal recessive | 605446 | HGNC:13436 |
| MERTK | MER; RP38; c-mer; MGC133349 | c-mer proto-oncogene tyrosine kinase | 2q14.1 | Retinitis Pigmentosa | autosomal recessive | 604705 | HGNC:7027 |
| RDH12 | LCA3; LCA13; SDR7C2; FLJ30273 | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | 14q23.3 | Leber Congenital Amaurosis | autosomal recessive | 608830 | HGNC:19977 |
| TULP1 | RP14; TUBL1 | tubby like protein 1 | 6p21.3 | Leber Congenital Amaurosis, Retinitis Pigmentosa | autosomal recessive | 602280 | HGNC:12423 |
| LRAT | MGC33103 | lecithin retinol acyltransferase (phosphatidylc-holine-retinol O-acyltransferase) | 4q31.3 | Retinitis Pigmentosa | autosomal recessive | 604863 | HGNC:6685 |
| LCA5 | LCA5 | Lebercilin | 6q14.1 | Leber Congenital Amaurosis | autosomal recessive | 611408 | HGNC:31923 |
| CEP290 | LCA10; KIAA0373; FLJ13615; 3H11Ag; rd16; NPHP6; JBTS5; SLSN6; LCA10; MKS4; BBS14; CT87 | centrosomal protein of 290 kDa | 12q21.3 | Leber Congenital Amaurosis, Joubert Syndrome, Bardet-Biedl Syndrome, Meckel Syndrome, Senior-Loken Syndrome | autosomal recessive | 610142 | HGNC:29021 |
| SPATA7 | HSD3 | spermatogenesis associated 7 | 14q31.3 | Leber Congenital Amaurosis 3, Retinitis Pigmentosa | autosomal recessive | 609868 | HGNC:20423 |
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