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  3. CSF2RB
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Familial pulmonary fibrosis

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype suggested by expert reviewer
Created: 27 Apr 2017, 3:08 p.m.
Created: 27 Apr 2017, 3:08 p.m.

Panel version: 0.115

Philip Molyneaux (Imperial College)

Green List (high evidence)

Association with PAP
Created: 26 Apr 2017, 9:20 a.m.
Created: 26 Apr 2017, 9:20 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Green List (high evidence)

Associated with pulmonary alveolar proteinosis. Reported in at least two families and supported by mouse model
Created: 9 Feb 2017, 2:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 5 614370

Publications

Created: 9 Feb 2017, 2:59 p.m.

Panel version: 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Pulmonary alveolar proteinosis
OMIM
138981
Clinvar variants
Variants in CSF2RB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Pulmonary alveolar proteinosis

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CSF2RB were set to 21075760; 15331184

9 Feb 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CSF2RB was changed to BIALLELIC, autosomal or pseudoautosomal

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF2RB was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CSF2RB was created by ellenmcdonagh