Rhabdomyolysis and metabolic muscle disorders
Gene: TSEN54EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
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 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 May 2021, 10:52 a.m. | Last Modified: 18 Jan 2022, 4:59 p.m.
Panel Version: 1.75
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, OMIM:277470
Publications
Zornitza Stark (Australian Genomics)
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
-
- NHS GMS
- Expert Review Red
- Literature
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Pontocerebellar hypoplasia type 2A, OMIM:277470
- OMIM
- 608755
- Clinvar variants
- Variants in TSEN54
- Penetrance
- Complete
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating was removed from gene: TSEN54. Tag Q2_21_expert_review was removed from gene: TSEN54.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to TSEN54. Source NHS GMS was added to TSEN54. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: TSEN54.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tsen54 has been classified as Green List (High Evidence).
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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TSEN54 were set to 25929793; 18711368
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: TSEN54.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TSEN54 were set to 25929793;18711368
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
Created
Sarah Leigh (Genomics England Curator)TSEN54 was created by sleigh