TRRAP

transformation/transcription domain associated protein
OMIM: 603015, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TRRAP in DDG2P


Version 2.78
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 Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Autism and Syndromic Intellectual Disability

    Amber TRRAP in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Expert Review
    • Expert Review Amber
    • Expert Review
    • Literature
    Phenotypes
    • Microcephaly
    • Seizures
    • Abnormal heart morphology
    • Autism
    • Developmental delay with or without dysmorphic facies and autism, 618454
    • Intellectual disability
    • Abnormality of the urinary system
    • Global developmental delay

    Green TRRAP in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Microcephaly
    • Seizures
    • Abnormal heart morphology
    • Autism
    • Developmental delay with or without dysmorphic facies and autism, 603015
    • Intellectual disability
    • Abnormality of the urinary system
    • Global developmental delay

    Green TRRAP 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
    • Developmental delay with or without dysmorphic facies and autism, 618454