Ocular and oculo-cutaneous albinism
Gene: HPS5
HPS5 (HPS5, biogenesis of lysosomal organelles complex 2 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000110756
EnsemblGeneIds (GRCh37): ENSG00000110756
OMIM: 607521, Gene2Phenotype
HPS5 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000110756
EnsemblGeneIds (GRCh37): ENSG00000110756
OMIM: 607521, Gene2Phenotype
HPS5 is in 5 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: After clinical comment, we have decided to make this gene green.Created: 7 Aug 2017, 7:31 a.m.
Chris Campbell (GEL)
Reported in >3 families with a clinical diagnosis of Hermansky-Pudlak syndrome 5, of which oculocutaneous albinism is a presenting feature.Created: 27 Apr 2017, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 5
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Hermansky-Pudlak syndrome 5
- OMIM
- 607521
- Clinvar variants
- Variants in HPS5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
7 Aug 2017, Gel status: 4
Set publications
Olivia Niblock (Genomics England Curator)Publications for HPS5 were set to 12548288; 18182080; 26785811; 27593200; 28296950
7 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Apr 2017, Gel status: 0
Added New Source
Chris Campbell (GEL)HPS5 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature
27 Apr 2017, Gel status: 0
Created
Chris Campbell (GEL)HPS5 was created by chriscampbell