Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: AGR2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 2 Feb 2023, 11:32 a.m. | Last Modified: 2 Feb 2023, 11:32 a.m.
Panel Version: 3.4
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.
Sources: LiteratureCreated: 28 Dec 2021, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CF-like disorder
Publications
Tag Q1_22_rating was removed from gene: AGR2.
Source Expert Review Green was added to AGR2. Source NHS GMS was added to AGR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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