AGR2

anterior gradient 2, protein disulphide isomerase family member
OMIM: 606358, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green AGR2 in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic fibrosis-like syndrome
  • chronic diarrhoea
Green AGR2 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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic fibrosis-like syndrome
Green AGR2 in Respiratory ciliopathies including non-CF bronchiectasis


Version 3.11
Latest signed off version: v3.10 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic fibrosis-like syndrome
  • chronic diarrhoea