Albinism or congenital nystagmus
Gene: HPS6
HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 8 panels
1 review
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hermansky-Pudlak syndrome 6 614075 AR
- OMIM
- 607522
- Clinvar variants
- Variants in HPS6
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
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