KDM3B

lysine demethylase 3B
OMIM: 609373, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber KDM3B in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, OMIM:618846
Tags
  • Q2_24_promote_green
Green KDM3B 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
    • Diets-Jongmans syndrome, OMIM:618846
    • Diets-Jongmans syndrome, MONDO:0030012
    Amber KDM3B in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diets-Jongmans syndrome, OMIM:618846
    • Diets-Jongmans syndrome, MONDO:0030012
    Tags
    • watchlist
    Amber KDM3B in Growth failure in early childhood


    Version 3.88
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diets-Jongmans syndrome, OMIM:618846
    • Diets-Jongmans syndrome, MONDO:0030012
    Tags
    • watchlist
    Green KDM3B 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diets-Jongmans syndrome, OMIM:618846
    • Diets-Jongmans syndrome, MONDO:0030012