Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Albinism or congenital nystagmus v0.14 AP3B1 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Classified gene: AP3B1 as Green List (high evidence)
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Gene: ap3b1 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.5 AP3B1 Ivone Leong reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2 608233 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.4 AP3B1 Ivone Leong gene: AP3B1 was added
gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR