Acute rhabdomyolysis
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.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
TSEN54 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Literature search showed that rhabdomyolysis has been identified in 3 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals was genetically confirmed with variants in TSEN54 (PMID: 23177318). Subsequent reports describing >50 individuals with TSEN54-related PCH do not provide any evidence of rhabdomyolysis in these cases (PMIDs: 20956791; 20952379).Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470
Publications
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