Familial pulmonary fibrosis
Gene: CSF2RA

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype suggested by expert reviewer
Created: 27 Apr 2017, 3:05 p.m.

Created: 27 Apr 2017, 3:05 p.m.

Panel version: 0.114

Philip Molyneaux (Imperial College)

Green List (high evidence)

Association with PAP
Created: 26 Apr 2017, 9:19 a.m.

Created: 26 Apr 2017, 9:19 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Sufficient reported cases
Created: 9 Feb 2017, 3:18 p.m.

Reported in at least 11 individuals with pulmonary alveolar proteinosis
Created: 9 Feb 2017, 3:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 4 300770

Publications

25425184

Created: 9 Feb 2017, 3:18 p.m.

Panel version: 0.101

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 4, 300770
Pulmonary alveolar proteinosis

Tags

Pseudoautosomal region 1

OMIM

306250

Clinvar variants

Variants in CSF2RA

Penetrance

Complete

Publications

25425184

Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

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

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, 300770; Pulmonary alveolar proteinosis

9 Feb 2017, Gel status: 4