Ocular and oculo-cutaneous albinismGene: HPS5
Comment on list classification: After clinical comment, we have decided to make this gene green.
Created: 7 Aug 2017, 7:31 a.m.
Reported in >3 families with a clinical diagnosis of Hermansky-Pudlak syndrome 5, of which oculocutaneous albinism is a presenting feature.
Created: 27 Apr 2017, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hermansky-Pudlak syndrome 5
Publications for HPS5 were set to 12548288; 18182080; 26785811; 27593200; 28296950
This gene has been classified as Green List (High Evidence).
HPS5 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature
HPS5 was created by chriscampbell