CSF2RB

colony stimulating factor 2 receptor beta common subunit
OMIM: 138981, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CSF2RB in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Congenital defects of phagocyte number or function
  • Alveolar proteinosis
Green CSF2RB in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Pulmonary alveolar proteinosis
Green CSF2RB in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
Red CSF2RB in Surfactant deficiency


Version 1.11
Latest signed off version: v1.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Green CSF2RB in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
Green CSF2RB in Pulmonary fibrosis familial

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370