Intestinal failure or congenital diarrhoea

Gene: AGR2

Amber List (moderate evidence)

AGR2 (anterior gradient 2, protein disulphide isomerase family member)
EnsemblGeneIds (GRCh38): ENSG00000106541
EnsemblGeneIds (GRCh37): ENSG00000106541
OMIM: 606358, Gene2Phenotype
AGR2 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green.
Created: 4 Jan 2022, 3:37 p.m. | Last Modified: 4 Jan 2022, 3:37 p.m.
Panel Version: 1.53

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

13 individuals reported in PMID: 34952832 with Cystic fibrosis -like syndrome, including with respiratory infections, bronchiectasis etc. Ciliary abnormalities are reported, but authors suggest that they are likely secondary, similarly to CF.
Sources: Literature
Created: 28 Dec 2021, 8:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CF-like syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Cystic fibrosis-like syndrome
  • chronic diarrhoea
Tags
Q1_22_rating
OMIM
606358
Clinvar variants
Variants in AGR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2022, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ivone Leong (Genomics England Curator)

gene: AGR2 was added gene: AGR2 was added to Intestinal failure. Sources: Expert Review Amber,Literature Q1_22_rating tags were added to gene: AGR2. Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGR2 were set to 34952832 Phenotypes for gene: AGR2 were set to Cystic fibrosis-like syndrome; chronic diarrhoea Penetrance for gene: AGR2 were set to Complete