Primary immunodeficiencyGene: 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, 4:11 p.m. | Last Modified: 4 Jan 2022, 4:11 p.m.
Panel Version: 2.503
13 individuals reported in PMID: 34952832 with Cystic Fibrosis like phenotype, including respiratory infections present in 13/13 individuals.
Created: 28 Dec 2021, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q1_22_rating tag was added to gene: AGR2.
Gene: agr2 has been classified as Amber List (Moderate Evidence).
Publications for gene: AGR2 were set to PMID: 34952832
Phenotypes for gene: AGR2 were changed from CF-like disorder to Cystic fibrosis-like syndrome
gene: AGR2 was added gene: AGR2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGR2 were set to PMID: 34952832 Phenotypes for gene: AGR2 were set to CF-like disorder Penetrance for gene: AGR2 were set to Complete Review for gene: AGR2 was set to GREEN