Familial pulmonary fibrosis
Gene: SERPINA1EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 7 panels
2 reviews
Philip Molyneaux (Imperial College)
Emphysema, not Fibrosis
Created: 26 Apr 2017, 12:16 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Emphysema rather than lung fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:46 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 107400
- Clinvar variants
- Variants in SERPINA1
- 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).
Created
Ellen McDonagh (Genomics England Curator)SERPINA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINA1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory