RAC2

Rac family small GTPase 2
OMIM: 602049, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green RAC2 in COVID-19 research


Level 2: Viral research
Version 1.141

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 4.191
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 1.116

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 3.21
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 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutrophil immunodeficiency syndrome, 608203