Albinism or congenital nystagmus
Gene: AP3B1
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Comments from HGMDpro: STRONG EVIDENCE: Numerous LOF variants present with Hermansky-Pudlak syndrome as the reported phenotype.Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233 AR
Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1 Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: ap3b1 has been classified as Green List (High Evidence).
gene: AP3B1 was added gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR