1. Genes and Genomic Entities
  2. ZMIZ1

ZMIZ1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ZMIZ1 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Syndromic Neurodevelopmental Disorder
    Amber ZMIZ1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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
    Green ZMIZ1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies