Interstitial Lung Disease
Gene: SFTPA1

SFTPA1 (surfactant protein A1)
EnsemblGeneIds (GRCh38): ENSG00000122852
EnsemblGeneIds (GRCh37): ENSG00000122852
OMIM: 178630, Gene2Phenotype
SFTPA1 is in 3 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

Agree with review below.
Created: 5 Nov 2021, 2:09 a.m. | Last Modified: 5 Nov 2021, 2:09 a.m.

Panel Version: 0.154

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

Created: 5 Nov 2021, 2:09 a.m.
Last Modified: 5 Nov 2021, 2:09 a.m.
Panel version: 0.154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four families and a mouse model, bi-allelic disease appears to be more severe, earlier onset.
Sources: Literature
Created: 6 Jul 2020, 8:51 a.m.

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

Phenotypes
Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611

Publications

Created: 6 Jul 2020, 8:51 a.m.

Panel version: 0.349

Details

Mode of Inheritance

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

Sources

Expert Review Amber
Literature
Victorian Clinical Genetics Services

Phenotypes

Idiopathic pulmonary fibrosis
Interstitial lung disease 1, MIM# 619611

OMIM

178630

Clinvar variants

Variants in SFTPA1

Penetrance

None

Publications

Panels with this gene