Familial pulmonary fibrosis

Gene: SERPINA1

Red List (low evidence)

SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 7 panels

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

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 phenotype
Created: 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

27 Apr 2017, Gel status: 1

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

9 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINA1 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINA1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory