ZMIZ1

zinc finger MIZ-type containing 1
OMIM: 607159, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ZMIZ1 in DDG2P


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Syndromic Neurodevelopmental Disorder

    Amber ZMIZ1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Expert Review
    • Expert Review Amber
    • Expert Review
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Feeding difficulties
    • Growth abnormality
    • Microcephaly
    • Abnormality of the skeletal system
    • Abnormality of the urinary system
    • Abnormality of the cardiovascular system
    • Abnormality of head or neck
    • Seizures

    Green ZMIZ1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 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
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Abnormality of head or neck
    • Microcephaly
    • Abnormality of the cardiovascular system
    • Abnormality of the skeletal system
    • Feeding difficulties
    • Intellectual disability
    • Global developmental delay
    • Abnormality of the urinary system
    • Growth abnormality
    • Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck