Transplant Co-Morbidity Superpanel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- MONDO:0008748
- Hermansky-Pudlak syndrome 1, MIM# 203300
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Publications
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HPS1 was added gene: HPS1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9497254 Phenotypes for gene: HPS1 were set to MONDO:0008748; Hermansky-Pudlak syndrome 1, MIM# 203300