| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Marked gene: BVES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Gene: bves has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Classified gene: BVES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Gene: bves has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Marked gene: BVES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Gene: bves has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Publications for gene: BVES were set to PMID: 26642364; 31119192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.8 | BVES | Zornitza Stark Classified gene: BVES as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.8 | BVES | Zornitza Stark Gene: bves has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.7 | BVES |
Elena Savva gene: BVES was added gene: BVES was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Literature Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BVES were set to PMID: 26642364; 31119192 Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Review for gene: BVES was set to AMBER Added comment: OMIM: aka POPDC1 PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years. PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness. Summary: multiple reports of patients with arrhythmias Sources: Literature |
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