CSF2RA

colony stimulating factor 2 receptor alpha subunit
OMIM: 306250, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CSF2RA in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Congenital pulmonary alveolar proteinosis
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
  • Pulmonary alveolar proteinosis
  • hypersensitivity
  • Surfactant metabolism dysfunction, pulmonary 4, 300770
Tags
  • Pseudoautosomal region 1
Green CSF2RA in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, 300770
  • Pulmonary alveolar proteinosis
Tags
  • Pseudoautosomal region 1
Green CSF2RA in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary 4, 300770
  • Congenital pulmonary alveolar proteinosis
  • hypersensitivity
  • Pulmonary alveolar proteinosis
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
Tags
  • Pseudoautosomal region 1
Red CSF2RA in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4 300770
    Tags
    • Pseudoautosomal region 1
    Green CSF2RA in Pulmonary fibrosis familial


    Level 2: Respiratory
    Version 1.8
    Latest signed off version: v1.3 (30 Nov 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770
    Tags
    • Pseudoautosomal region 1