KDM3B

lysine demethylase 3B
OMIM: 609373, Gene2Phenotype

5 panels

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


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

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


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    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
    Green KDM3B 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diets-Jongmans syndrome, OMIM:618846
    • Diets-Jongmans syndrome, MONDO:0030012
    Amber KDM3B in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    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