Pulmonary fibrosis familial
Gene: CSF2RA

CSF2RA (colony stimulating factor 2 receptor alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000198223
EnsemblGeneIds (GRCh37): ENSG00000198223
OMIM: 306250, Gene2Phenotype
CSF2RA is in 5 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

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770

Tags

Pseudoautosomal region 1

OMIM

306250

Clinvar variants

Variants in CSF2RA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.

16 Feb 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CSF2RA was added gene: CSF2RA was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 18955570; 25425184 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770

Pulmonary fibrosis familial Gene: CSF2RA