1. Genes and Genomic Entities
  2. KDM5B

KDM5B

lysine demethylase 5B
OMIM: 605393, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber KDM5B in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green KDM5B in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Autism
    Green KDM5B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 65, OMIM:618109
    Green KDM5B in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 65, 618109