1. Genes and Genomic Entities
  2. TSEN54

TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Red TSEN54 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    Green TSEN54 in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia type 5, 610204
    Green TSEN54 in Ataxia and cerebellar anomalies - narrow panel


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.68
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    • Other
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Red TSEN54 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Pontocerebellar hypoplasia 2A, 277470
    • Pontocerebellar hypoplasia 4, 225753
    Green TSEN54 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
    Green TSEN54 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Green TSEN54 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, OMIM:277470
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    Red TSEN54 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green TSEN54 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 4, 225753
    • Pontocerebellar hypoplasia type 2A, 277470
    • ?Pontocerebellar hypoplasia type 5, 610204
    Red TSEN54 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, OMIM:277470