1. Genes and Genomic Entities
  2. KDM6B

KDM6B

lysine demethylase 6B
OMIM: 611577, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber KDM6B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Stolerman neurodevelopmental syndrome, OMIM:618505
Green KDM6B in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    • KDM6B-related developmental disorder (monoallelic)
    Green KDM6B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505
    • neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790
    Green KDM6B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505
    • neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790