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 - narrow panel


Level 2: Neurology
Version 8.72
Latest signed off version: v8.0 (30 Apr 2025)

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 7.39
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  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 Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.42
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    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 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

    		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