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  3. CSF2RB
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Childhood 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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

CSF2RB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614370) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712; Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370
  • surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712
OMIM
138981
Clinvar variants
Variants in CSF2RB
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CSF2RB was added gene: CSF2RB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370; surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712