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Pigmentary skin disorders v0.27 AP3B1 Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 2; HPS2 for gene: AP3B1
Publications for gene AP3B1 were changed from to 10024875; 14566336
Pigmentary skin disorders v0.25 AP3B1 Tom Cullup reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10024875, 14566336; Phenotypes: HERMANSKY-PUDLAK SYNDROME 2, HPS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.8 AP3B1 Rebecca Foulger Source London North GLH was added to AP3B1.
Pigmentary skin disorders v0.4 AP3B1 Rebecca Foulger reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.3 AP3B1 Rebecca Foulger gene: AP3B1 was added
gene: AP3B1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome