Familial pulmonary fibrosis
Gene: HPS6EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 8 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)
No reported cases of pulmonary fibrosis in HPS6Created: 9 Feb 2017, 9:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 6 614075
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 6 614075
- OMIM
- 607522
- Clinvar variants
- Variants in HPS6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
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 HPS6 were set to Hermansky-Pudlak syndrome 6 614075
Set publications
Alice Gardham (Genomics England)Publications for HPS6 were set to 19843503
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HPS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)HPS6 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)HPS6 was created by ellenmcdonagh