Intestinal failure or congenital diarrhoeaGene: AGR2
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
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.
Created: 28 Dec 2021, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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