Phagocyte Defects
Gene: CSF2RBEnsemblGeneIds (GRCh38): ENSG00000100368
EnsemblGeneIds (GRCh37): ENSG00000100368
OMIM: 138981, Gene2Phenotype
CSF2RB is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 2 unrelated cases reported and multiple supporting mouse models. Condition includes impaired alveolar macrophages.
Sources: Expert listCreated: 18 Mar 2021, 11:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
- OMIM
- 138981
- Clinvar variants
- Variants in CSF2RB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: csf2rb has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: csf2rb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CSF2RB was added gene: CSF2RB was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370 Review for gene: CSF2RB was set to GREEN