TRAF7

TNF receptor associated factor 7
OMIM: 606692, Gene2Phenotype

8 panels

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


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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
    Green TRAF7 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.90

    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


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

    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 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • craniosynostosis
    Green TRAF7 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
    • Developmental Delay Congenital Anomalies and Dysmorphic Features
    Amber TRAF7 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cardiac, facial, and digital anomalies with developmental delay, OMIM:618164
    Amber TRAF7 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.123
    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
    • 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


    Level 2: Developmental disorders
    Version 9.281
    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 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