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GENATLAS PHENOTYPE |
last update : 07-02-2012 |
Symbol | LCA3 |
Location | 14q31.3 |
HGNC id | 20423 |
Name | Leber congenital amaurosis, type 3 |
Other name(s) | early-onset retinal dystrophy |
Corresponding gene | SPATA7 |
related resource | Retinal Information Network |
Other symbol(s) | EORD |
Main clinical features |
|
Genetic determination | autosomal recessive |
Prevalence | 1,7% (PMID:21310915) |
Related entries | including cases of juvenile retinitis pigmentosa (PMID: 19268277) |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | spermatogenesis associated 7 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
|  
| 265_268delCTCA, L89KfsX3
1227_1229delCAC, H410del
(PMID:21310915)
| nonsense
|  
|  
| 253C-T, R85X
(PMID:21310915)
| nonsense
|  
|  
| c.322C→T; p.R108X
(PMID:19268277)
| frameshift
|  
|  
| c.961dupA; p.P321TfsX326
(PMID:19268277)
| |
Remark(s) |
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