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  1. Genes and Genomic Entities
  2. RAC2

RAC2

Rac family small GTPase 2
OMIM: 602049, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RAC2 in Mendeliome


Version 1.3512

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 1.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    • 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 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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

    Green RAC2 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.44

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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


    Level 2: Immunological disorders
    Version 1.27

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Green RAC2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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