THAP1

THAP domain containing 1
OMIM: 609520, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red THAP1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.108

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
  • DYT6

Green THAP1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629

Red THAP1 in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
  • DYT6

Red THAP1 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSTONIA 6, TORSION

Green THAP1 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DYSTONIA 6, TORSION 602629

    Red THAP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • DYSTONIA 6, TORSION

    Green THAP1 in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia 6, torsion, OMIM:602629

    Green THAP1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia 6, torsion, 602629
    • Dystonia

    Green THAP1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dystonia 6, torsion, 602629