Familial pulmonary fibrosis
Gene: HPS4EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels
2 reviews
Philip Molyneaux (Imperial College)
HP type 4 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, 7:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 4 614073
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome, 4, 614073
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
- Pulmonary Disease
- Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis
- OMIM
- 606682
- Clinvar variants
- Variants in HPS4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HPS4 were set to 11836498, 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 HPS4 were set to Hermansky-Pudlak syndrome, 4, 614073;Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease; Hermansky-Pudlak Syndrome type 4, 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 HPS4 were set to 11836498, 20301464
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HPS4 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).
Created
Ellen McDonagh (Genomics England Curator)HPS4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)HPS4 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory