TRRAP

transformation/transcription domain associated protein
OMIM: 603015, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TRRAP in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism, MIM# 618454

Green TRRAP in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism (MIM#618454)

Green TRRAP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental delay with or without dysmorphic facies and autism, MIM#618454

    Green TRRAP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental delay with or without dysmorphic facies and autism
    • OMIM #618454

    Red TRRAP in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Deafness, autosomal dominant 75 MIM#618778

    Green TRRAP in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental delay with or without dysmorphic facies and autism, MIM# 618454

    Green TRRAP in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with or without dysmorphic facies and autism- #618454
    • multiple congenital anomalies