1. Genes and Genomic Entities
  2. KDM6B

KDM6B

lysine demethylase 6B
OMIM: 611577, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red KDM6B in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green KDM6B in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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)
    Amber KDM6B in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • 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
    Tags
    • Q3_23_promote_green
    Green KDM6B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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