Leber Congenital Amaurosis Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | LCA5/167691 | lebercilin LCA5 | 6q14.1 | Chr6, NC_000006.12 (79484991..79538782, complement) |
53792 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CEP290/80184 | centrosomal protein 290 | 12q21.32 | Chr12, NC_000012.12 (88049016..88142088, complement) |
93073 nt | 60 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SPATA7/55812 | spermatogenesis associated 7 | 14q31.3 | Chr14, NC_000014.9 (88385657..88470350) |
84694 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | RDH12/145226 | retinol dehydrogenase 12 | 14q24.1 | Chr14, NC_000014.9 (67701886..67734451) |
32566 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | RPGRIP1/57096 | RPGR interacting protein 1 | 14q11.2 | Chr14, NC_000014.9 (21280083..21351301) |
71219 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | AIPL1/23746 | aryl hydrocarbon receptor interacting protein like 1 | 17p13.2 | Chr17, NC_000017.11 (6423738..6435121, complement) |
11384 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | CRB1/23418 | crumbs cell polarity complex component 1 | 1q31.3 | Chr1, NC_000001.11 (197201504..197478455) |
276952 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | CRX/1406 | cone-rod homeobox | 19q13.33 | Chr19, NC_000019.10 (47821937..47843324) |
21388 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | GUCY2D/3000 | guanylate cyclase 2D, retinal | 17p13.1 | Chr17, NC_000017.11 (8002615..8020342) |
17728 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | RPE65/6121 | retinoid isomerohydrolase RPE65 | 1p31.3 | Chr1, NC_000001.11 (68428822..68449954, complement) |
21133 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | RD3/343035 | RD3 regulator of GUCY2D | 1q32.3 | Chr1, NC_000001.11 (211476522..211492162, complement) |
15641 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | IMPDH1/3614 | inosine monophosphate dehydrogenase 1 | 7q32.1 | Chr7, NC_000007.14 (128392277..128409982, complement) |
17706 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | TULP1/7287 | TUB like protein 1 | 6p21.31 | Chr6, NC_000006.12 (35497874..35512896, complement) |
15023 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | KCNJ13/3769 | potassium inwardly rectifying channel subfamily J member 13 | 2q37.1 | Chr2, NC_000002.12 (232765802..232776565, complement) |
10764 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | NMNAT1/64802 | nicotinamide nucleotide adenylyltransferase 1 | 1p36.22 | Chr1, NC_000001.11 (9942923..9996892) |
53970 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | GDF6/392255 | growth differentiation factor 6 | 8q22.1 | Chr8, NC_000008.11 (96142333..96160806, complement) |
18474 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | RIMS1/22999 | regulating synaptic membrane exocytosis 1 | 6q13 | Chr6, NC_000006.12 (71886550..72403145) |
516596 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | NPHP1/4867 | nephrocystin 1 | 2q13 | Chr2, NC_000002.12 (110123348..110205013, complement) |
81666 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | LRAT/9227 | lecithin retinol acyltransferase | 4q32.1 | Chr4, NC_000004.12 (154740838..154753120) |
12283 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | PDE6A/5145 | phosphodiesterase 6A | 5q32 | Chr5, NC_000005.10 (149857953..149944793, complement) |
86841 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | AHI1/54806 | Abelson helper integration site 1 | 6q23.3 | Chr6, NC_000006.12 (135283532..135497740, complement) |
214209 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | RP2/6102 | RP2 activator of ARL3 GTPase | Xp11.3 | ChrX, NC_000023.11 (46837043..46882358) |
45316 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | IQCB1/9657 | IQ motif containing B1 | 3q13.33 | Chr3, NC_000003.12 (121769761..121835060, complement) |
65300 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | TUBB4B/10383 | tubulin beta 4B class IVb | 9q34.3 | Chr9, NC_000009.12 (137241287..137243707) |
2421 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | USP45/85015 | ubiquitin specific peptidase 45 | 6q16.2 | Chr6, NC_000006.12 (99432325..99517846, complement) |
85522 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | PROM1/8842 | prominin 1 | 4p15.32 | Chr4, NC_000004.12 (15968228..16084023, complement) |
115796 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | INPP5E/56623 | inositol polyphosphate-5-phosphatase E | 9q34.3 | Chr9, NC_000009.12 (136428619..136439845, complement) |
11227 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | CFAP410/755 | cilia and flagella associated protein 410 | 21q22.3 | Chr21, NC_000021.9 (44328944..44339390, complement) |
10447 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | ALMS1/7840 | ALMS1 centrosome and basal body associated protein | 2p13.1 | Chr2, NC_000002.12 (73385758..73609919) |
224162 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | RPGRIP1L/23322 | RPGRIP1 like | 16q12.2 | Chr16, NC_000016.10 (53598153..53703859, complement) |
105707 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||