PanelApp (test)
  1. Genes and Genomic Entities
  2. JARID2

JARID2

jumonji and AT-rich interaction domain containing 2
OMIM: 601594, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green JARID2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098

Red JARID2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098

    Green JARID2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
    Tags
    • SV/CNV