Inherited bleeding disorders
Gene: HPS1
HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Hermansky-Pudlak syndrome
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Likely inborn error of metabolism
- Pulmonary fibrosis familial
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)HPS1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HPS1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HPS1 was created by ellenmcdonagh