Congenital nystagmus

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nystagmus is a feature, secondary to ocular albinism.
Created: 25 Oct 2021, 4:46 a.m. | Last Modified: 25 Oct 2021, 4:46 a.m.
Panel Version: 0.53

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Hermansky-Pudlak syndrome 5 (MIM#614074)
OMIM
607521
Clinvar variants
Variants in HPS5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hermansky-Pudlak syndrome 5 for gene: HPS5

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPS5 was added gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950 Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5