Pulmonary fibrosis familial
Gene: SFTPA2

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.

Panel Version: 0.2

Created: 16 Feb 2022, 4:02 p.m.
Last Modified: 16 Feb 2022, 4:02 p.m.
Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Interstitial lung disease 2, OMIM:178500

OMIM

178642

Clinvar variants

Variants in SFTPA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SFTPA2 was added gene: SFTPA2 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SFTPA2 were set to 19100526; 26568241; 32855221 Phenotypes for gene: SFTPA2 were set to Interstitial lung disease 2, OMIM:178500

Pulmonary fibrosis familial Gene: SFTPA2