Familial pulmonary fibrosis

Gene: SFTPA2

Green List (high evidence)

SFTPA2 (surfactant protein A2)
EnsemblGeneIds (GRCh38): ENSG00000185303
EnsemblGeneIds (GRCh37): ENSG00000185303
OMIM: 178642, Gene2Phenotype
SFTPA2 is in 2 panels

2 reviews

Philip Molyneaux (Imperial College)

Green List (high evidence)

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations reported in at least six affected individuals
Created: 9 Feb 2017, 3:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary fibrosis, idiopathic 178500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary fibrosis, idiopathic, 178500
OMIM
178642
Clinvar variants
Variants in SFTPA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SFTPA2 were set to 20301408; 19100526; 26568241

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Feb 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for SFTPA2 were set to 20301408; 19100526

8 Feb 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for SFTPA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPA2 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SFTPA2 was created by ellenmcdonagh