RAC2

Rac family small GTPase 2
OMIM: 602049, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green RAC2 in COVID-19 research Level 2: Viral research Version 1.142	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 SCID v1.6 GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services ESID Registry 20171117 Combined B and T cell defect v1.12 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 SCID v1.6 Congenital neutropaenia v1.22 Combined B and T cell defect v1.12 Phenotypes Reticular dysgenesis poststreptococcal glomerulonephritis Congenital defects of phagocyte number or function Neutrophil immunodeficiency syndrome RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2) T-B+ SCID Neutrophil immunodeficiency syndrome 608203 Recurrent sinopulmonary infections, selective IgA defiency urticaria T-B- SCID Poor wound healing, leukocytosis
Green RAC2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 SCID v1.6 Congenital neutropaenia v1.22 Combined B and T cell defect v1.12 Phenotypes T-B- SCID T-B+ SCID Neutrophil immunodeficiency syndrome 608203 Neutrophil immunodeficiency syndrome RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2) Poor wound healing, leukocytosis Congenital defects of phagocyte number or function Reticular dysgenesis Recurrent sinopulmonary infections, selective IgA defiency poststreptococcal glomerulonephritis urticaria
Red RAC2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neutrophil immunodeficiency syndrome, 608203
Amber RAC2 in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Amber Wessex and West Midlands GLH Phenotypes Neutrophil immunodeficiency syndrome, 608203
Green RAC2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neutrophil immunodeficiency syndrome, 608203