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Gene: HPS5

Green List (high evidence)
HPS5 (HPS5, biogenesis of lysosomal organelles complex 2 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000110756
EnsemblGeneIds (GRCh37): ENSG00000110756
OMIM: 607521, Gene2Phenotype
HPS5 is in 10 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Red on babyscreen becasu of lack of treatment but the review says:
Well established gene-disease association. Congenital onset.
Treatment is supportive.

from OMIM:
Characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).
Created: 20 Sep 2024, 6:32 a.m. | Last Modified: 20 Sep 2024, 6:32 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 5 MIM#614074

Created: 20 Sep 2024, 6:32 a.m.
Last Modified: 20 Sep 2024, 6:32 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 5, 614074 (3)
OMIM
607521
Clinvar variants
Variants in HPS5
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: hps5 has been classified as Green List (High Evidence).

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hermansky-Pudlak syndrome 5, 614074 (3) for gene: HPS5

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPS5 was added gene: HPS5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)