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 Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Green ZMIZ1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.167
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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