TRRAP

transformation/transcription domain associated protein
OMIM: 603015, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TRRAP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism, OMIM:618454
  • multiple congenital anomalies
Green TRRAP in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Autism and Syndromic Intellectual Disability
    Green TRRAP in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with or without dysmorphic facies and autism, OMIM:618454
    Amber TRRAP in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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