1. Genes and Genomic Entities
  2. MAPK8IP3

MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3
OMIM: 605431, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green MAPK8IP3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.26
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Green MAPK8IP3 in Malformations of cortical development


    Level 2: Neurology
    Version 8.7
    Latest signed off version: v8.6 (12 Aug 2026)

    Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Green MAPK8IP3 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Green MAPK8IP3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • polymicrogyria
    • cerebral atrophy
    • corpus callosum anomalies
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Green MAPK8IP3 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual Disability with Variable Brain Anomalies
    Green MAPK8IP3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Red MAPK8IP3 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    Amber MAPK8IP3 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.30 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
    • neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755