CSF2RA:Ensemblv90

colony stimulating factor 2 receptor alpha subunit
OMIM: 306250, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CSF2RA in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.4

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

Green CSF2RA in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

Green CSF2RA in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.178

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

Green CSF2RA in Phagocyte Defects


Level 2: Immunological disorders
Version 1.45

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770

    Green CSF2RA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

    Red CSF2RA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

    Green CSF2RA in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

    Green CSF2RA in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770

    Green CSF2RA in Phagocyte Defects


    Level 2: Immunological disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770

    Green CSF2RA in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770