| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.23 | VARS2 | Zornitza Stark Marked gene: VARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.23 | VARS2 | Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.23 | VARS2 | Zornitza Stark Classified gene: VARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.23 | VARS2 | Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.22 | VARS2 |
Zornitza Stark gene: VARS2 was added gene: VARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS2 were set to 40563223; 33937156; 31623496; 30458719; 29314548; 27502409 Phenotypes for gene: VARS2 were set to combined oxidative phosphorylation defect type 20, MONDO:0014397 Review for gene: VARS2 was set to GREEN Added comment: PMID 29314548 reports 13 patients from nine unrelated families with biallelic VARS2 loss‑of‑function variants presenting with early‑onset mitochondrial encephalomyopathy and hypertrophic cardiomyopathy. PMID 40563223 adds four patients from three unrelated families with similar phenotype and demonstrates rescue of a Xenopus VARS2 knockout. Single families with the same phenotype are further described in PMID 27502409, PMID 31623496, PMID 30458719 and PMID 33937156, all harbouring biallelic VARS2 variants and severe paediatric cardiomyopathy. Sources: Literature |
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