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  2. Pulmonary fibrosis familial
  3. CSF2RB
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Pulmonary fibrosis familial

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 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, 5, OMIM:614370
OMIM
138981
Clinvar variants
Variants in CSF2RB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CSF2RB was added gene: CSF2RB was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 15331184; 21075760 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370