PanelApp (staging)
  1. Genes and Genomic Entities
  2. MAP2K2

MAP2K2

mitogen-activated protein kinase kinase 2
OMIM: 601263, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green MAP2K2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K2 in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 4, MIM# 615280

Green MAP2K2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MAP2K2 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 4, MIM# 615280

Green MAP2K2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 4, MIM# 615280

    Green MAP2K2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MAP2K2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cardiofaciocutaneous syndrome 3, MIM# 615279

    Green MAP2K2 in Lymphoedema_syndromic

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

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green MAP2K2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

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

    Green MAP2K2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green MAP2K2 in Growth failure


    Version 1.76

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, MIM# 615280

    Green MAP2K2 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, MIM# 615280

    Red MAP2K2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cardiofaciocutaneous syndrome 4, MIM# 615280