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  2. Intestinal failure or congenital diarrhoea
  3. AGR2
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Intestinal failure or congenital diarrhoea

Gene: AGR2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:40 a.m. | Last Modified: 1 Feb 2023, 7:40 a.m.
Panel Version: 2.3
Created: 1 Feb 2023, 7:40 a.m.
Last Modified: 1 Feb 2023, 7:40 a.m.
Panel version: 2.3

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
Created: 4 Jan 2022, 3:37 p.m.
Last Modified: 4 Jan 2022, 3:37 p.m.
Copied from panel: Respiratory ciliopathies including non-CF bronchiectasis v1.53

Dmitrijs Rots (Children's Clinical University Hospital)

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

Created: 28 Dec 2021, 8:29 a.m.

Copied from panel: Respiratory ciliopathies including non-CF bronchiectasis v1.53

Details

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

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_22_rating was removed from gene: AGR2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

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