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  3. CSF2RA
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Phagocyte Defects

Gene: CSF2RA

Green List (high evidence)
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, 9:52 p.m. | Last Modified: 7 Nov 2021, 9:52 p.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Nov 2021, 9:52 p.m.
Last Modified: 7 Nov 2021, 9:52 p.m.
Panel version: 1.1

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated families reported with impairment of alveolar macrophages, and supporting mouse models
Sources: Expert list
Created: 18 Mar 2021, 11:03 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770

Publications

Created: 18 Mar 2021, 11:03 p.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770
OMIM
306250
Clinvar variants
Variants in CSF2RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csf2ra has been classified as Green List (High Evidence).

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: csf2ra has been classified as Green List (High Evidence).

18 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CSF2RA was added gene: CSF2RA was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CSF2RA were set to 18955567; 18955570; 31326401; 28233860; 28212655; 24279752 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Review for gene: CSF2RA was set to GREEN