Ocular and oculo-cutaneous albinismGene: HPS3
Comment on list classification: After clinical discussion, we have decided that the evidence for this gene is high enough to grant 'green' status
Created: 7 Aug 2017, 7:30 a.m.
Homozygous and compound heterozygous mutations found in >3 families with diagnosis of Hermansky-Pudlak syndrome 3. Patients exhibited pigment dilution.
Created: 27 Apr 2017, 1:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hermansky-Pudlak syndrome 3
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
HPS3 was created by chriscampbell
HPS3 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert Review,Literature