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GENATLAS PHENOTYPE |
last update : 03-12-2020 |
Symbol | RP16 |
Location | 4p12 |
Name | retinitis pigmentosa 16 |
Corresponding gene | CNGA1 |
related resource | Retinal Information Network |
Other symbol(s) | ARRP5, RP49 |
Main clinical features | characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment |
Genetic determination | autosomal recessive |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | cGMP channel (CNGA1) rod phosphoreceptor, alpha subunit (CNGA1) |
Remark(s) |