Activity
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12 actions
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| Paediatric or syndromic cardiomyopathy v7.102 | POPDC2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated individuals reported with both cardiac conduction disease and hypertrophic cardiomyopathy and identified with biallelic POPDC2 variants. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated individuals reported with both cardiac conduction disease and hypertrophic cardiomyopathy and identified with biallelic POPDC2 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.102 | POPDC2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated individuals reported with both cardiac conduction disease and hypertrophic cardiomyopathy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated individuals reported with both cardiac conduction disease and hypertrophic cardiomyopathy and identified with biallelic POPDC2 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.102 | POPDC2 | Achchuthan Shanmugasundram Classified gene: POPDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.102 | POPDC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated individuals reported with both cardiac conduction disease and hypertrophic cardiomyopathy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.102 | POPDC2 | Achchuthan Shanmugasundram Gene: popdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.101 | POPDC2 | Achchuthan Shanmugasundram Phenotypes for gene: POPDC2 were changed from cardiac conduction defects and hypertrophic cardiomyopathy to Cardiac conduction disease with or without cardiomyopathy 2, OMIM:621367; cardiac conduction disease with or without cardiomyopathy 2, MONDO:0700389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.100 | POPDC2 | Achchuthan Shanmugasundram Publications for gene: POPDC2 were set to PMID: 40409267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 | Achchuthan Shanmugasundram edited their review of gene: POPDC2: Changed phenotypes to: Cardiac conduction disease with or without cardiomyopathy 2, OMIM:621367, cardiac conduction disease with or without cardiomyopathy 2, MONDO:0700389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 | Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: POPDC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 | Achchuthan Shanmugasundram reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40409267, 41456958; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, OMIM:621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 | Ludmila Volozonoka reviewed gene: POPDC2: Rating: ; Mode of pathogenicity: None; Publications: 41456958, 40409267; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 |
Dmitrijs Rots gene: POPDC2 was added gene: POPDC2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC2 were set to PMID: 40409267 Phenotypes for gene: POPDC2 were set to cardiac conduction defects and hypertrophic cardiomyopathy Penetrance for gene: POPDC2 were set to unknown Review for gene: POPDC2 was set to GREEN Added comment: PMID: 40409267 reports 4 families with recessive inheritance with presenting with cardiac conduction defects and hypertrophic cardiomyopathy with some functional evidence. enough for green rating. Sources: Literature |
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