Familial pulmonary fibrosis
Gene: EFEMP2EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 8 panels
2 reviews
Philip Molyneaux (Imperial College)
Empysema related gene
Created: 26 Apr 2017, 9:55 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Associated with emphysema rather than pulmonary fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:35 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 604633
- Clinvar variants
- Variants in EFEMP2
- 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)EFEMP2 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)EFEMP2 was created by ellenmcdonagh