Familial pulmonary fibrosis
Gene: SFTPA2

SFTPA2 (surfactant protein A2)
EnsemblGeneIds (GRCh38): ENSG00000185303
EnsemblGeneIds (GRCh37): ENSG00000185303
OMIM: 178642, Gene2Phenotype
SFTPA2 is in 3 panels

2 reviews

Philip Molyneaux (Imperial College)

Green List (high evidence)

Created: 26 Apr 2017, 9:26 a.m.

Panel version: 0.110

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

Created: 8 Feb 2017, 4:53 p.m.

Panel version: 0.29

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