Familial pulmonary fibrosis
Gene: HPS1EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:19 p.m.
Philip Molyneaux (Imperial College)
HP type 1 associated with pulmonary fibrosis.Created: 26 Apr 2017, 9:23 a.m.
Alice Gardham (Genomics England)
The pulmonary fibrosis of HPS typically causes symptoms in the thirties and is usually fatal within a decade. The pulmonary fibrosis has been described largely in individuals with HPS-1 from northwestern Puerto Rico [Brantly et al 2000, Avila et al 2002], but also occurs in other individuals with HPS-1 [Brantly et al 2000, Hermos et al 2002] or HPS-4 [Anderson et al 2003, Bachli et al 2004] or HPS-2Created: 8 Feb 2017, 7:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1 203300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 1, 203300
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
- Pulmonary Disease
- Hermansky-Pudlak Syndrome type 1 associated with pulmonary fibrosis
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HPS1 were set to 8896559, 20301464
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for HPS1 were set to Hermansky-Pudlak syndrome 1, 203300; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease; Hermansky-Pudlak Syndrome type 1 associated with pulmonary fibrosis
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for HPS1 were set to 8896559, 20301464
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HPS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HPS1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)HPS1 was created by ellenmcdonagh