Pigmentary skin disordersGene: AP3B1
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AP3B1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Added phenotypes HERMANSKY-PUDLAK SYNDROME 2; HPS2 for gene: AP3B1 Publications for gene AP3B1 were changed from to 10024875; 14566336
Source London North GLH was added to AP3B1.
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