Familial pulmonary fibrosis
Gene: RSPH4AEnsemblGeneIds (GRCh38): ENSG00000111834
EnsemblGeneIds (GRCh37): ENSG00000111834
OMIM: 612647, Gene2Phenotype
RSPH4A is in 10 panels
2 reviews
Philip Molyneaux (Imperial College)
PCD not fibrosis
Created: 26 Apr 2017, 12:14 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Causes primary ciliary dyskinesia -bronchiectasis rather than fibrosisCreated: 8 Feb 2017, 5:40 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 612647
- Clinvar variants
- Variants in RSPH4A
- Penetrance
- Complete
- 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).
Added New Source
Ellen McDonagh (Genomics England Curator)RSPH4A was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)RSPH4A was created by ellenmcdonagh