KDM5A

lysine demethylase 5A
OMIM: 180202, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green KDM5A in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820
  • Neurodevelopmental disorder MONDO:0700092, KDM5A-related

Red KDM5A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, KDM5A-related

    Green KDM5A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, KDM5A-related
    • El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820