| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.19 | SUCLG1 | Zornitza Stark Marked gene: SUCLG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.19 | SUCLG1 | Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.19 | SUCLG1 | Zornitza Stark Classified gene: SUCLG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.19 | SUCLG1 | Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.18 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLG1 were set to 26475597 Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9, MONDO:0009504 Review for gene: SUCLG1 was set to GREEN Added comment: PMID 26475597 reports 21 individuals from 5 families with biallelic SUCLG1 variants presenting with mitochondrial DNA depletion syndrome 9, characterised by infantile encephalomyopathy, lactic acidosis, hypotonia and hypertrophic cardiomyopathy. Cardiomyopathy was present in around 15%. Sources: Literature |
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