MAP2K2

mitogen-activated protein kinase kinase 2
OMIM: 601263, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green MAP2K2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.35

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome

Green MAP2K2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 4
  • Cardio-Facio-Cutaneous syndrome type 4
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome

Amber MAP2K2 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Signed off v.2.5 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Cardiofaciocutaneous syndrome 4 615280

Green MAP2K2 in Pigmentary skin disorders


Version 1.10
Signed off v.1.4 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 4, 615280

Red MAP2K2 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Signed off v.2.11 on 15 Oct 2020

Component of the following Super Panels:

  • Sudden cardiac death
  • review Unknown
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Green MAP2K2 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiofaciocutaneous syndrome

    Amber MAP2K2 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Cardiofaciocutaneous syndrome 4 615280

    Green MAP2K2 in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARDIOFACIOCUTANEOUS SYNDROME

    Green MAP2K2 in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARDIOFACIOCUTANEOUS SYNDROME 115150

    Red MAP2K2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green MAP2K2 in Growth failure in early childhood


    Version 1.58
    Signed off v.1.4 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • CFC syndrome
    • Cardiofaciocutaneous syndrome 4
    • Cardiofaciocutaneous syndrome
    • Cardio-Facio-Cutaneous syndrome type 4
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome

    Green MAP2K2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.323
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, 615280

    Green MAP2K2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, 615280
    • CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)

    Green MAP2K2 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Cardiofaciocutaneous syndrome 4 615280

    Green MAP2K2 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.8
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cardiofaciocutaneous syndrome 4 615280

    Green MAP2K2 in Cardiomyopathies - including childhood onset


    Version 1.30
    Signed off v.1.4 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert List
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Cardio-Facio-Cutaneous syndrome type 4
    • CFC syndrome
    • Cardiofaciocutaneous syndrome 4 615280
    • Cardiofaciocutaneous syndrome 4
    • syndromic HCM
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome

    Red MAP2K2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Signed off v.1.2 on 27 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green MAP2K2 in Severe Paediatric Disorders


    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, 615280