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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 |
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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 |