Ocular and Oculocutaneous 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 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. PMID: 28296950; - 11 unrelated probands - all PTVs except 2 missense in a pair of siblings. PMID: 32725903 - Chinese cohort, 4x probands - all PTVs except 3 missense
Created: 21 Sep 2020, 10:26 a.m. | Last Modified: 21 Sep 2020, 10:26 a.m.

Panel Version: 0.4533

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 5 (MIM#614074)

Publications

Created: 21 Sep 2020, 10:26 a.m.
Last Modified: 21 Sep 2020, 10:26 a.m.
Panel version: Imported from Mendeliome panel version 0.4533

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28296950;
- 11 unrelated probands listed
- all PTVs except 2 missense in a pair of siblings

PMID: 32725903
- Chinese cohort, 4x probands
- all PTVs except 3 missense
Created: 21 Sep 2020, 6:27 a.m. | Last Modified: 21 Sep 2020, 6:27 a.m.

Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 5 (MIM#614074),

Publications

Created: 21 Sep 2020, 6:27 a.m.
Last Modified: 21 Sep 2020, 6:27 a.m.
Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Hermansky-Pudlak syndrome 5 (MIM#614074)

OMIM

607521

Clinvar variants

Variants in HPS5

Penetrance

None

Publications

Panels with this gene