DEF6

DEF6, guanine nucleotide exchange factor
OMIM: 610094, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DEF6 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • DEF6 deficiency
  • Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
  • Diseases of Immune Dysregulation
Green DEF6 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiency 87 and autoimmunity, OMIM:619573
  • Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections