Ocular and oculo-cutaneous albinismGene: HPS4
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 HPS4. Oculocutaneous albinism is a presenting feature of this syndrome
Created: 27 Apr 2017, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hermansky-Pudlak syndrome 4
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
HPS4 was created by chriscampbell
HPS4 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature