SUZ12

SUZ12 polycomb repressive complex 2 subunit
OMIM: 606245, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SUZ12 in Segmental overgrowth disorders


Version 2.16
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Imagawa-Matsumoto syndrome 618786

Green SUZ12 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.119

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Imagawa-Matsumoto syndrome 618786

Green SUZ12 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Weaver-like overgrowth syndrome
  • Imagawa-Matsumoto syndrome #618786

Green SUZ12 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Weaver-like overgrowth syndrome

    Green SUZ12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Imagawa-Matsumoto syndrome 618786

    Green SUZ12 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Weaver-like overgrowth syndrome
    • Imagawa-Matsumoto syndrome, 618786