CSF3R

colony stimulating factor 3 receptor
OMIM: 138971, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CSF3R in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014

Green CSF3R in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014

Green CSF3R in Phagocyte Defects


Level 2: Immunological disorders
Version 1.29

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014

    Green CSF3R in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green CSF3R in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014

    Green CSF3R in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
    Tags
    • treatable
    • immunological