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| Albinism or congenital nystagmus v0.17 | AP3D1 | Jonathan Callaway reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-Pudlak syndrome 10 617050 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.16 | AP3D1 |
Ivone Leong Source Expert Review Amber was added to AP3D1. Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Albinism or congenital nystagmus v0.15 | AP3D1 |
Ivone Leong gene: AP3D1 was added gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR |
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