RAC2

Rac family small GTPase 2
OMIM: 602049, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RAC2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203
  • Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987
  • Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986

Green RAC2 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 0.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • SCID
    • recurrent bacterial and viral infections
    • lymphoproliferation
    • neutropaenia
    • reticular dysgenesis
    • deafness
    • selective IgA deficiency
    • Reduced Ab responses following vaccination

    Green RAC2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203
    • Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987
    • Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986

    Amber RAC2 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Common variable immunodeficiency

    Green RAC2 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
    • Neutrophil immunodeficiency syndrome, MIM# 608203
    • Common variable immunodeficiency

    Green RAC2 in Severe Combined Immunodeficiency (absent T absent B cells)


    Level 2: Immunological disorders
    Version 1.7

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • SCID
    • recurrent bacterial and viral infections
    • lymphoproliferation
    • neutropaenia
    • reticular dysgenesis
    • deafness

    Green RAC2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986
    Tags
    • treatable
    • immunological