Acute rhabdomyolysis
Gene: TSEN54
TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels
1 review
Arina Puzriakova (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Pontocerebellar hypoplasia type 2A, OMIM:277470
- OMIM
- 608755
- Clinvar variants
- Variants in TSEN54
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
19 Jan 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)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