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Respiratory ciliopathies including non-CF bronchiectasis v2.3 | AGR2 | Sarah Leigh Tag Q1_22_rating was removed from gene: AGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v2.3 | AGR2 | Sarah Leigh reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v2.2 | AGR2 |
Sarah Leigh 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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Respiratory ciliopathies including non-CF bronchiectasis v1.53 | AGR2 | Ivone Leong Tag Q1_22_rating tag was added to gene: AGR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.53 | AGR2 | Ivone Leong Classified gene: AGR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.53 | AGR2 | Ivone Leong 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.53 | AGR2 | Ivone Leong Gene: agr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.52 | AGR2 | Ivone Leong Phenotypes for gene: AGR2 were changed from CF-like syndrome to Cystic fibrosis-like syndrome; chronic diarrhoea | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.51 | AGR2 | Ivone Leong Publications for gene: AGR2 were set to PMID: 34952832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.50 | AGR2 |
Dmitrijs Rots gene: AGR2 was added gene: AGR2 was added to Respiratory ciliopathies including non-CF bronchiectasis. 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 syndrome 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 syndrome, including with respiratory infections, bronchiectasis etc. Ciliary abnormalities are reported, but authors suggest that they are likely secondary, similarly to CF. Sources: Literature |