Pigmentary skin disordersGene: HPS1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
HERMANSKY-PUDLAK SYNDROME 1; HPS1
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: HPS1; 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 1; HPS1 for gene: HPS1 Publications for gene HPS1 were changed from to 9497254
Source London North GLH was added to HPS1.
gene: HPS1 was added gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome