1. Genes and Genomic Entities
  2. MAP4K4

MAP4K4

mitogen-activated protein kinase kinase kinase kinase 4
OMIM: 604666, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MAP4K4 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, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related
Tags
  • gene-checked
Green MAP4K4 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
    • DD-Gene2Phenotype
    • Expert Review Green
    • Literature
    Phenotypes
    • MAP4K4-related neurodevelopmental disorder with/without congenital anomalies
    • multiple congenital anomalies
    • neurodevelopmental differences
    Tags
    • de novo
    • gene-checked
    Amber MAP4K4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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 Amber
    • DD-Gene2Phenotype
    • Literature
    Phenotypes
    • MAP4K4-related neurodevelopmental disorder with/without congenital anomalies
    • multiple congenital anomalies
    • neurodevelopmental differences
    Tags
    • Q2_25_ promote_green
    • gene-checked
    Green MAP4K4 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.87

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental differences
    • multiple congenital anomalies
    Tags
    • gene-checked