Lysosomal Storage Disorder
Gene: HPS1
HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Gene product is involved in biogenesis of lysosomal organelles.
Sources: Expert listCreated: 8 Feb 2021, 1:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1, MIM# 203300
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hermansky-Pudlak syndrome 1, MIM# 203300
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Lysosomal Storage Disorder
- Congenital nystagmus
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Interstitial Lung Disease
History Filter Activity
8 Feb 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hps1 has been classified as Green List (High Evidence).
8 Feb 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hps1 has been classified as Green List (High Evidence).
8 Feb 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HPS1 was added gene: HPS1 was added to Lysosomal Storage Disorder. Sources: Expert list Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, MIM# 203300 Review for gene: HPS1 was set to GREEN