MAP3K7

mitogen-activated protein kinase kinase kinase 7
OMIM: 602614, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MAP3K7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
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
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137

    Green MAP3K7 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Cardiospondylocarpofacial syndrome, OMIM:157800
    • Cardiospondylocarpofacial syndrome, MONDO:0008005
    • Frontometaphyseal dysplasia 2, OMIM:617137
    • Frontometaphyseal dysplasia 2, MONDO:0014935

    Amber MAP3K7 in DDG2P


    Version 2.76
    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
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • FRONTOMETAPHYSEAL DYSPLASIA 305620
    • Cardiospondylocarpofacial syndrome

    Green MAP3K7 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.69
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137
    • FMD2
    • autosomal dominant FMD
    • AD-FMD

    Red MAP3K7 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    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 Red
    • Literature
    • Literature
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137

    Green MAP3K7 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
    • Cardiospondylocarpofacial syndrome, 157800
    • Frontometaphyseal dysplasia 2, 617137