Pulmonary fibrosis familial
Gene: SFTPA1

SFTPA1 (surfactant protein A1)
EnsemblGeneIds (GRCh38): ENSG00000122852
EnsemblGeneIds (GRCh37): ENSG00000122852
OMIM: 178630, Gene2Phenotype
SFTPA1 is in 2 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

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Interstitial lung disease 1, OMIM:619611

OMIM

178630

Clinvar variants

Variants in SFTPA1

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: SFTPA1 was added gene: SFTPA1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SFTPA1 were set to 30854216; 26792177; 32855221; 28869238; 31601679 Phenotypes for gene: SFTPA1 were set to Interstitial lung disease 1, OMIM:619611

Pulmonary fibrosis familial Gene: SFTPA1