PanelApp (stage)
  1. Genes and Genomic Entities
  2. MAP2K1

MAP2K1

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

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green MAP2K1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome MIM#615279

Green MAP2K1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 3, MIM# 615279

Green MAP2K1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 3, MIM# 615279

Green MAP2K1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, MIM# 615279

    Green MAP2K1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MAP2K1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Noonan Syndrome with Multiple Lentigines, OMIM # 615279

    Green MAP2K1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red MAP2K1 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Intramuscular fast-flow vascular anomaly
    • Arteriovenous malformation
    Tags
    • somatic

    Red MAP2K1 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • NA

    Green MAP2K1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green MAP2K1 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.13

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Arteriovenous malformation
    • Intramuscular fast-flow vascular anomaly
    Tags
    • somatic

    Green MAP2K1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • NHS GMS
    • Expert Review Green
    • Expert List
    • London South GLH
    Phenotypes
    • ?Noonan syndrome
    • Cardiofaciocutaneous Syndrome
    • Cardio-Facio-Cutaneous syndrome
    • Cardiofaciocutaneous syndrome 3
    • syndromic HCM
    • CFC syndrome
    • LEOPARD syndrome

    Green MAP2K1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Cardiofaciocutaneous syndrome

    Amber MAP2K1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • vascular malformations

    Green MAP2K1 in Growth failure


    Version 1.76

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, MIM# 615279

    Green MAP2K1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, MIM# 615279

    Red MAP2K1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, MIM# 615279