| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated and arrhythmogenic cardiomyopathy v2.7 | RYR2 | Arina Puzriakova Publications for gene: RYR2 were set to 20301310; 19926015; 17875969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.13 | RYR2 | Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel. Definitive ARVC/CPVT gene, appropriate for DCM panel due to possible phenotypic overlap. some evidence for exon 3 deletion specifically associated with DCM.; to: On CGGL Royal Brompton DCM panel. Definitive CPVT gene, appropriate for DCM panel due to possible phenotypic overlap as some evidence for exon 3 deletion specifically associated with DCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.62 | RYR2 |
Ivone Leong Source Expert Review Green was added to RYR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Dilated and arrhythmogenic cardiomyopathy v0.61 | RYR2 | Kate Thomson reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.52 | RYR2 | Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Green to Amber. The group has agreed that this gene should be Amber on this panel. Testing should involve dosage analysis only in this gene.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.51 | RYR2 |
Ivone Leong Source Expert Review Amber was added to RYR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Dilated and arrhythmogenic cardiomyopathy v0.46 | RYR2 | James Eden Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.46 | RYR2 | James Eden edited their review of gene: RYR2: Added comment: RYR2 is not currently tested in Manchester for DCM. RYR2 (whole gene) is associated with ARVD and CPVT on OMIM. Limited association of RYR2 variants with DCM. The RYR2 exon 3 deletion was reported in one article in 2 families with CPVT combined with additional features of dilated cardiomyopathy (https://www.ncbi.nlm.nih.gov/pubmed/17875969). This deletion is more commonly associated with LVNC cardiomyopathy in the literature (https://www.ncbi.nlm.nih.gov/pubmed/24394973, https://www.ncbi.nlm.nih.gov/pubmed/26018045).; Changed rating: AMBER; Changed publications: 17875969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.46 | RYR2 | James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 24394973, 26018045, 22374134, 16828071; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.44 | RYR2 | Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.41 | RYR2 | Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.40 | RYR2 | Ivone Leong Publications for gene: RYR2 were set to 20301310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.37 | RYR2 | Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.36 | RYR2 |
Ivone Leong gene: RYR2 was added gene: RYR2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to 20301310 Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2 |
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