KDM2B

lysine demethylase 2B
OMIM: 609078, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KDM2B in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474

    Green KDM2B in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.531

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474

    Green KDM2B in Mendeliome


    Version 1.4566

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO#0700092, KDM2B-related

    Green KDM2B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.703

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474

    Green KDM2B in Fetal anomalies


    Version 1.543

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevNeurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474