Albinism or congenital nystagmus

Gene: HPS6

Green List (high evidence)

HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: STRONG EVIDENCE: Numerous LOF variants present with Hermansky-Pudlak syndrome as the reported phenotype (6 with albinism - ocular or oculocutaneous).
Created: 13 Feb 2019, 11:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 6 614075 AR

History Filter Activity

20 Mar 2019, Gel status: 3

Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6 Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hps6 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: HPS6 was added gene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR