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Primary immunodeficiency

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

Arina Puzriakova (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, 4:11 p.m. | Last Modified: 4 Jan 2022, 4:11 p.m.
Panel Version: 2.503

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

13 individuals reported in PMID: 34952832 with Cystic Fibrosis like phenotype, including respiratory infections present in 13/13 individuals.
Sources: Literature
Created: 28 Dec 2021, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CF-like disorder

Publications

Details

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

History Filter Activity

5 Jan 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_rating tag was added to gene: AGR2.

4 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: agr2 has been classified as Amber List (Moderate Evidence).

4 Jan 2022, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AGR2 were set to PMID: 34952832

4 Jan 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AGR2 were changed from CF-like disorder to Cystic fibrosis-like syndrome

28 Dec 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

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