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| Acute rhabdomyolysis v0.6 | TSEN54 | Arina Puzriakova commented on gene: TSEN54: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.3 | TSEN54 | Arina Puzriakova reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: 23177318, 25929793; Phenotypes: Pontocerebellar hypoplasia type 2A, OMIM:277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | TSEN54 |
Arina Puzriakova gene: TSEN54 was added gene: TSEN54 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to 25929793; 23177318 Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, OMIM:277470 |
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