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 4.52
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
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137
    Green MAP3K7 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Green MAP3K7 in DDG2P


    Version 3.79
    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
    • FRONTOMETAPHYSEAL DYSPLASIA 305620
    • Cardiospondylocarpofacial syndrome
    Green MAP3K7 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    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 Green
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137
    • FMD2
    • autosomal dominant FMD
    • AD-FMD
    Red MAP3K7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    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 Red
    • Literature
    • Literature
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137
    Green MAP3K7 in Severe Paediatric Disorders


    Version 1.182

    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