Interstitial Lung Disease
Gene: CSF2RA

CSF2RA (colony stimulating factor 2 receptor alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000198223
EnsemblGeneIds (GRCh37): ENSG00000198223
OMIM: 306250, Gene2Phenotype
CSF2RA is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Males and females affected, variants are bi-allelic as gene is located in PAR1.
Created: 7 Nov 2021, 9:47 p.m. | Last Modified: 7 Nov 2021, 9:49 p.m.

Panel Version: 0.192

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Nov 2021, 9:45 p.m.
Last Modified: 7 Nov 2021, 9:49 p.m.
Panel version: 0.192

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Animal models and functional data.
Created: 6 Nov 2021, 1:41 a.m. | Last Modified: 6 Nov 2021, 1:41 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood pulmonary alveolar proteinosis

Publications

Created: 6 Nov 2021, 1:41 a.m.
Last Modified: 6 Nov 2021, 1:41 a.m.
Panel version: 0.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

OMIM

306250

Clinvar variants

Variants in CSF2RA

Penetrance

None

Publications

Panels with this gene