Familial pulmonary fibrosis
Gene: HPS5EnsemblGeneIds (GRCh38): ENSG00000110756
EnsemblGeneIds (GRCh37): ENSG00000110756
OMIM: 607521, Gene2Phenotype
HPS5 is in 5 panels
2 reviews
Philip Molyneaux (Imperial College)
HP types 1, 2, and 4 are the only types associated with pulmonary fibrosis.
Created: 26 Apr 2017, 12:10 p.m.
Alice Gardham (Genomics England)
Only reported in one individual. No documented lung fibrosisCreated: 9 Feb 2017, 9:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 5
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 5 614074
- OMIM
- 607521
- Clinvar variants
- Variants in HPS5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for HPS5 were set to Hermansky-Pudlak syndrome 5 614074
Set publications
Alice Gardham (Genomics England)Publications for HPS5 were set to 12548288
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HPS5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)HPS5 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)HPS5 was created by ellenmcdonagh