MAP2K1

mitogen-activated protein kinase kinase 1
OMIM: 176872, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green MAP2K1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

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

Red MAP2K1 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Green MAP2K1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 3
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • ?Noonan syndrome

Amber MAP2K1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.3
Signed off v.2.2 on 18 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan syndrome

Green MAP2K1 in Pigmentary skin disorders


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • CFC3
  • Cardio-Facio-Cutaneous syndrome
  • ?Noonan syndrome
  • Cardiofaciocutaneous syndrome 3
  • CARDIOFACIOCUTANEOUS SYNDROME 3

Red MAP2K1 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.1

Component of the following Super Panels:

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

    Green MAP2K1 in Mosaic skin disorders - deep sequencing


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cardio-facio-cutaneous syndrome

    Green MAP2K1 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

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

    Amber MAP2K1 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    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
    • Cardio-Facio-Cutaneous syndrome
    • CFC syndrome
    • LEOPARD syndrome
    • Cardiofaciocutaneous syndrome 3
    • ?Noonan syndrome

    Green MAP2K1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

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

    Green MAP2K1 in DDG2P


    Version 2.3
    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 MAP2K1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

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

    Green MAP2K1 in Growth failure in early childhood


    Version 1.3
    Signed off v.1.1 on 31 Jul 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • LEOPARD syndrome
    • CFC syndrome
    • Cardiofaciocutaneous syndrome
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome
    • Cardiofaciocutaneous syndrome 3
    • ?Noonan syndrome

    Green MAP2K1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    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 3, 615279

    Green MAP2K1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    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
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, 615279
    • CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)

    Green MAP2K1 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.55

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Cardiofaciocutaneous syndrome 3
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome
    • CFC syndrome
    • LEOPARD syndrome
    • ?Noonan syndrome

    Green MAP2K1 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.1
    Signed off v.2.0 on 2 Oct 2019

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cardiofaciocutaneous syndrome 3 615279

    Green MAP2K1 in Cardiomyopathies - including childhood onset


    Version 1.5
    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
    • CFC syndrome
    • ?Noonan syndrome
    • syndromic HCM
    • LEOPARD syndrome
    • Cardiofaciocutaneous syndrome 3
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome

    Red MAP2K1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.1
    Signed off v.1.0 on 13 Dec 2019

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