Rhabdomyolysis and metabolic muscle disorders

Gene: TSEN54

Green List (high evidence)

TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 15 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel review - only a single patient reported to date, with rhabdomyolysis and a homozygous TSEN54 variant.
Created: 19 May 2021, 10:57 a.m. | Last Modified: 19 May 2021, 10:57 a.m.
Panel Version: 1.46
Literature search showed that rhabdomyolysis has been identified in 6 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals has a confirmed variant 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 May 2021, 10:52 a.m. | Last Modified: 19 May 2021, 10:52 a.m.
Panel Version: 1.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Rhabdomyolysis is not a prominent feature of this condition, single case report identified.
Created: 7 Oct 2020, 10:59 p.m. | Last Modified: 7 Oct 2020, 10:59 p.m.
Panel Version: 1.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2A MIM#277470

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P for Pontocerebellar Hypoplasia Type 2 and Type 4. At least 5 variants reported in Pontocerebellar Hypoplasia Type 4, c.919G>T / p.A307S reported in 42 cases of Pontocerebellar Hypoplasia Type 2.
Created: 5 Dec 2016, 2:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pontocerebellar hypoplasia type 2A, OMIM:277470
Tags
Q2_21_rating
OMIM
608755
Clinvar variants
Variants in TSEN54
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 May 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tsen54 has been classified as Green List (High Evidence).

19 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TSEN54 were changed from ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753 to Pontocerebellar hypoplasia type 2A, OMIM:277470

19 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TSEN54 were set to 25929793; 18711368

19 May 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TSEN54.

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TSEN54 were set to 25929793;18711368

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TSEN54 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TSEN54 was created by sleigh