MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3
OMIM: 605431, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MAPK8IP3 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.202

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

    Green MAPK8IP3 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.92

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities
    • NEDBA MONDO:0032755

    Green MAPK8IP3 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443

    Green MAPK8IP3 in Mendeliome


    Version 1.3802

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

    Amber MAPK8IP3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443

    Green MAPK8IP3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

    Amber MAPK8IP3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Royal Melbourne Hospital
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

    Green MAPK8IP3 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities 618443

    Green MAPK8IP3 in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities - #618443
    • cerebral atrophy
    • corpus callosum anomalies
    • polymicrogyria