TRAF7

TNF receptor associated factor 7
OMIM: 606692, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber TRAF7 in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, 618164
    • Developmental Delay, Congenital Anomalies, and Dysmorphic Features
    Tags
    • missense
    Red TRAF7 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green TRAF7 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.80

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay 618164
    Tags
    • missense
    Green TRAF7 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Developmental Delay, Congenital Anomalies, and Dysmorphic Features
    • Cardiac, facial, and digital anomalies with developmental delay, 618164
    Green TRAF7 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • craniosynostosis
    Green TRAF7 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Developmental Delay Congenital Anomalies and Dysmorphic Features
    Amber TRAF7 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, OMIM:618164
    Amber TRAF7 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Literature
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, 618164
    • Global developmental delay
    • Abnormal heart morphology
    • Abnormality of digit
    • Abnormality of limbs
    Tags
    • watchlist
    Green TRAF7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, 618164
    • Global developmental delay
    • Abnormal heart morphology
    • Abnormality of digit
    • Abnormality of limbs
    Green TRAF7 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, 618164