Pulmonary fibrosis familial
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
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hermansky-Pudlak syndrome 1, OMIM:203300
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Publications
- 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
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: HPS1 was added gene: HPS1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 8896559; 31619213; 20301464 Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, OMIM:203300