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| Acute rhabdomyolysis v0.6 | SUCLA2 | Arina Puzriakova commented on gene: SUCLA2: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.3 | SUCLA2 | Arina Puzriakova reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33231368, 23010432, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | SUCLA2 |
Arina Puzriakova gene: SUCLA2 was added gene: SUCLA2 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 17301081; 23010432; 33231368 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 |
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