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Interstitial Lung Disease
Gene: CSF2RB

CSF2RB (colony stimulating factor 2 receptor beta common subunit)
EnsemblGeneIds (GRCh38): ENSG00000100368
EnsemblGeneIds (GRCh37): ENSG00000100368
OMIM: 138981, Gene2Phenotype
CSF2RB is in 6 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

Single reported case of childhood pulmonary alveolar proteinosis. PMID: 21205713
Several cases of adult pulmonary alveolar proteinosis reported. Animal model and functional data.
Created: 6 Nov 2021, 2:14 a.m. | Last Modified: 6 Nov 2021, 2:14 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM#614370 Surfactant metabolism dysfunction, pulmonary, 5

Publications

Created: 6 Nov 2021, 2:14 a.m.
Last Modified: 6 Nov 2021, 2:14 a.m.
Panel version: 0.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370

OMIM

Clinvar variants

Variants in CSF2RB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csf2rb has been classified as Amber List (Moderate Evidence).

7 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370

7 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CSF2RB were set to

7 Nov 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csf2rb has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSF2RB was added gene: CSF2RB was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CSF2RB was set to Unknown