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| Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 | AGR2 | Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: AGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 | AGR2 | Achchuthan Shanmugasundram reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 | AGR2 |
Achchuthan Shanmugasundram 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) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 | AGR2 | Arina Puzriakova Tag Q1_22_rating tag was added to gene: AGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 | AGR2 | Arina Puzriakova Classified gene: AGR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 | AGR2 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 | AGR2 | Arina Puzriakova Gene: agr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.502 | AGR2 | Arina Puzriakova Publications for gene: AGR2 were set to PMID: 34952832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.501 | AGR2 | Arina Puzriakova Phenotypes for gene: AGR2 were changed from CF-like disorder to Cystic fibrosis-like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 | AGR2 |
Dmitrijs Rots 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 Added comment: 13 individuals reported in PMID: 34952832 with Cystic Fibrosis like phenotype, including respiratory infections present in 13/13 individuals. Sources: Literature |
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