ARHGEF1

Rho guanine nucleotide exchange factor 1
OMIM: 601855, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ARHGEF1 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Predominantly Antibody Deficiencies
  • Recurrent infections, bronchiectasis
  • Immunodeficiency 62, 618459
  • ARHGEF1 deficiency
Red ARHGEF1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
Phenotypes
  • Predominantly Antibody Deficiencies
  • Recurrent infections, bronchiectasis
  • Immunodeficiency 62, 618459
  • ARHGEF1 deficiency