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| Dilated and arrhythmogenic cardiomyopathy v2.14 | PPA2 | Achchuthan Shanmugasundram Classified gene: PPA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.14 | PPA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for this gene to be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.14 | PPA2 | Achchuthan Shanmugasundram Gene: ppa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.13 | PPA2 | Achchuthan Shanmugasundram Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, OMIM:617222; ?Sudden cardiac failure, alcohol-induced, OMIM:617223 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.12 | PPA2 | Achchuthan Shanmugasundram Publications for gene: PPA2 were set to PMID: 34400813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.11 | PPA2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPA2. Tag Q3_23_NHS_review tag was added to gene: PPA2. |
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| Dilated and arrhythmogenic cardiomyopathy v2.11 | PPA2 | Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMIM:617222, ?Sudden cardiac failure, alcohol-induced, OMIM:617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.10 | PPA2 |
Matthew Edwards gene: PPA2 was added gene: PPA2 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to PMID: 34400813 Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced Penetrance for gene: PPA2 were set to unknown Review for gene: PPA2 was set to GREEN gene: PPA2 was marked as current diagnostic Added comment: Now a well established gene causing infantile sudden death, but can also manifest at a later age as alcohol-induced sudden death. Our lab and others have found several bi-allelic pathogenic variants in such SCD cases (see above ref). Is currently on syndromic/paediatric cardiomyopathy panel (R135) and mitochindrial panels, but wholly appropriate for this panel as well Sources: Expert Review |
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