Familial pulmonary fibrosis
Gene: HPS3EnsemblGeneIds (GRCh38): ENSG00000163755
EnsemblGeneIds (GRCh37): ENSG00000163755
OMIM: 606118, Gene2Phenotype
HPS3 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, 12:09 p.m.
Alice Gardham (Genomics England)
No reported lung fibrosis. Same mutation in three related families onlyCreated: 9 Feb 2017, 9:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 3 614072
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 3 614072
- Tags
- OMIM
- 606118
- Clinvar variants
- Variants in HPS3
- 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 HPS3 were set to Hermansky-Pudlak syndrome 3 614072
Set publications
Alice Gardham (Genomics England)Publications for HPS3 were set to 11455388
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HPS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)HPS3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)HPS3 was created by ellenmcdonagh