Rhabdomyolysis and metabolic muscle disorders
Gene: TSEN54
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
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
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
Tag Q2_21_rating was removed from gene: TSEN54. Tag Q2_21_expert_review was removed from gene: TSEN54.
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)
Tag Q2_21_expert_review tag was added to gene: TSEN54.
Gene: tsen54 has been classified as Green List (High Evidence).
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
Publications for gene: TSEN54 were set to 25929793; 18711368
Tag Q2_21_rating tag was added to gene: TSEN54.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for TSEN54 were set to 25929793;18711368
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
TSEN54 was created by sleigh