Date Panel Item Activity
3 actions
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)
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