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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. CSF2RB
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: CSF2RB

Green List (high evidence)
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, predominantly adult onset.
Created: 7 Nov 2021, 9:56 p.m. | Last Modified: 7 Nov 2021, 9:56 p.m.
Panel Version: 0.9613

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370

Publications

Created: 7 Nov 2021, 9:56 p.m.
Last Modified: 7 Nov 2021, 9:56 p.m.
Panel version: Imported from Mendeliome panel version 0.9613

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
138981
Clinvar variants
Variants in CSF2RB
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: CSF2RB was added gene: CSF2RB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CSF2RB was set to Unknown