MAPK1

mitogen-activated protein kinase 1
OMIM: 176948, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAPK1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13 - MIM#619087

Amber MAPK1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Noonan syndrome 13 MIM#619087

Green MAPK1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13, MIM#619087
  • Global developmental delay
  • Intellectual disability
  • Behavioral abnormality
  • Growth delay
  • Abnormality of the face
  • Abnormality of the neck
  • Abnormality of the cardiovascular system
  • Abnormality of the skin

Green MAPK1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13, MIM#619087
  • Global developmental delay
  • Intellectual disability
  • Behavioral abnormality
  • Growth delay
  • Abnormality of the face
  • Abnormality of the neck
  • Abnormality of the cardiovascular system
  • Abnormality of the skin

Green MAPK1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13, MIM#619087
  • Global developmental delay
  • Intellectual disability
  • Behavioral abnormality
  • Growth delay
  • Abnormality of the face
  • Abnormality of the neck
  • Abnormality of the cardiovascular system
  • Abnormality of the skin

Green MAPK1 in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Noonan syndrome 13, MIM#619087

Green MAPK1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13 - MIM#619087