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  3. TSEN54
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Rhabdomyolysis and Metabolic Myopathy

Gene: TSEN54

Red List (low evidence)
TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review.
Created: 21 Apr 2020, 1:32 a.m. | Last Modified: 21 Apr 2020, 1:32 a.m.
Panel Version: 0.2532

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia

Created: 21 Apr 2020, 1:32 a.m.
Last Modified: 21 Apr 2020, 1:32 a.m.
Panel version: Imported from Mendeliome panel version 0.2532

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with recurrent rhabdomyolysis and PCH with a homozygous variant.
Created: 12 Feb 2020, 9:10 a.m. | Last Modified: 29 May 2020, 7:46 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2A MIM#277470

Publications

Created: 12 Feb 2020, 9:10 a.m.
Last Modified: 29 May 2020, 7:46 a.m.
Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 5 610204
  • Pontocerebellar hypoplasia type 4 225753
  • Pontocerebellar hypoplasia type 2A 277470
OMIM
608755
Clinvar variants
Variants in TSEN54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen54 has been classified as Red List (Low Evidence).

7 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN54 were set to

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tsen54 has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TSEN54 was added gene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470