RAC2

Rac family small GTPase 2
OMIM: 602049, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RAC2 in Mendeliome


Version 2.0

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 2.0

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 2.0

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 2.0

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 2.0

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 2.0

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