1. Genes and Genomic Entities
  2. KDM5B

KDM5B

lysine demethylase 5B
OMIM: 605393, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KDM5B in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • KDM5B-related neurodevelopmental disorder (biallelic)
    • Intellectual developmental disorder, autosomal recessive 65, OMIM:618109
    • intellectual disability, autosomal recessive, MONDO:0020850
    • KDM5B-related neurodevelopmental disorder (monoallelic)
    • neurodevelopmental disorder, MONDO:0700092
    Green KDM5B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 65, OMIM:618109