EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit
OMIM: 601573, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red EZH2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Red EZH2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Weaver syndrome, MIM#277590

    Green EZH2 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.149

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Weaver syndrome MIM#277590

    Green EZH2 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Weaver syndrome MIM#277590

    Green EZH2 in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Weaver syndrome MIM#277590

    Green EZH2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Weaver syndrome MIM#277590

    Green EZH2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Weaver syndrome

    Green EZH2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Weaver syndrome 2

    Green EZH2 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Weaver syndrome MIM#277590

    Red EZH2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Weaver syndrome MIM#277590