1. Genes and Genomic Entities
  2. MAP3K7

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 2: Musculoskeletal
Version 8.46
Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.194
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.447
    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
    • FRONTOMETAPHYSEAL DYSPLASIA 305620
    • Cardiospondylocarpofacial syndrome
    Green MAP3K7 in Clefting


    Level 2: Musculoskeletal
    Version 6.25
    Latest signed off version: v6.5 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.400
    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 Red
    • Literature
    • Literature
    Phenotypes
    • Frontometaphyseal dysplasia 2, 617137
    Green MAP3K7 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.102
    Latest signed off version: v7.0 (30 Apr 2025)

    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 Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Cardiospondylocarpofacial syndrome, OMIM:157800