1. Genes and Genomic Entities
  2. JAKMIP1

JAKMIP1

janus kinase and microtubule interacting protein 1
OMIM: 611195, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber JAKMIP1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • seizures
    Tags
    • watchlist
    Amber JAKMIP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • seizures
    Tags
    • watchlist