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Congenital nystagmus

Gene: HPS3

Green List (high evidence)
HPS3 (HPS3, biogenesis of lysosomal organelles complex 2 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000163755
EnsemblGeneIds (GRCh37): ENSG00000163755
OMIM: 606118, Gene2Phenotype
HPS3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Created: 3 Jun 2021, 9:47 a.m. | Last Modified: 25 Oct 2021, 4:44 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555

Publications

Created: 3 Jun 2021, 9:47 a.m.
Last Modified: 25 Oct 2021, 4:44 a.m.
Panel version: Imported from Ocular and Oculocutaneous Albinism panel version 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 3, MIM# 614072
  • MONDO:0013555
OMIM
606118
Clinvar variants
Variants in HPS3
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: hps3 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: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPS3 were set to 11455388; 11590544

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hermansky-Pudlak syndrome 3 for gene: HPS3

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: HPS3 was added gene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS3 were set to 11455388; 11590544 Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3