TSEN2

tRNA splicing endonuclease subunit 2
OMIM: 608753, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green TSEN2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.234
Latest signed off version: v2.23 (8 Oct 2020)

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
    • Pontocerebellar hypoplasia type 2B,612389
    • Pontocerebellar Hypoplasia type 2B
    • Pontocerebellar hypoplasia 2B (612389)

    Green TSEN2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.241

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia 2B, 612389

    Red TSEN2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.122
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list

    Green TSEN2 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.59

    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 2B
    • Pontocerebellar Hypoplasia
    • Pontocerebellar hypoplasia type 2B,612389

    Red TSEN2 in Neurodegenerative disorders - adult onset


    Version 2.196
    Latest signed off version: v2.178 (5 Aug 2021)

    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 2B, 612389

    Amber TSEN2 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
    Tags
    • for-review

    Amber TSEN2 in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970

    Amber TSEN2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.422
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia type 2B, 612389

    Green TSEN2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1282
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4

    Green TSEN2 in Hereditary ataxia - adult onset


    Version 2.85
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia 2B, 612389

    Red TSEN2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.152
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TSEN2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 2B, 612389