1. Genes and Genomic Entities
  2. KDM5A

KDM5A

lysine demethylase 5A
OMIM: 180202, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber KDM5A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Red KDM5A in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green KDM5A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • autism spectrum disorder, MONDO:0005258
    • intellectual disability, MONDO:0001071
    • El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820