Pulmonary Fibrosis_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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 10 unrelated families reported. Animal models and functional data. Males and females affected, variants are bi-allelic as gene is located in PAR1.
Created: 7 Nov 2021, 9:50 p.m. | Last Modified: 7 Nov 2021, 9:50 p.m.

Panel Version: 0.9610

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

Publications

Created: 7 Nov 2021, 9:50 p.m.
Last Modified: 7 Nov 2021, 9:50 p.m.
Panel version: Imported from Mendeliome panel version 0.9610

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert Review Green
Victorian Clinical Genetics Services

OMIM

306250

Clinvar variants

Variants in CSF2RA

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSF2RA was added gene: CSF2RA was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CSF2RA was set to Unknown

Pulmonary Fibrosis_Interstitial Lung Disease Gene: CSF2RA