RAC2

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green RAC2 in Mendeliome Version 1.2302	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 1.0 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 1.114 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
Amber RAC2 in Common Variable Immunodeficiency Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.33 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 (absent T absent B cells) Level 2: Immunological disorders Version 1.8 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.116	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