ZEB2

zinc finger E-box binding homeobox 2
OMIM: 605802, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ZEB2 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
  • Alder Hey - Erasmus MC
Phenotypes
  • Mowat-Wilson syndrome, 235730
  • Mowat-Wilson Syndrome, 235730
  • MWS
  • Hirschsprung disease
  • Mental retardation and distinct facial features, with or without Hirschsprung disease
Tags
  • cnv

Red ZEB2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.210

Component of the following Super Panels:

  • Merge for Neurodegenerative disorders - adult onset v1.174
  • review Not set
    Sources
    • Expert Review Red
    • UKGTN

    Green ZEB2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Mowat-Wilson syndrome 235730

    Red ZEB2 in Hereditary spastic paraplegia - childhood onset


    Version 2.6

    review Not set
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    • UKGTN

    Red ZEB2 in Hereditary spastic paraplegia - adult onset


    Version 1.2

    review Not set
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • South West GLH

    Red ZEB2 in Neurodegenerative disorders - adult onset


    Version 1.107

    review Unknown
    Sources
    • Expert Review Red

    Green ZEB2 in Fetal anomalies


    Version 0.346

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MOWAT-WILSON SYNDROME

    Green ZEB2 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Mowat-Wilson syndrome 235730
    • 235730

    Green ZEB2 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MOWAT-WILSON SYNDROME 235730

    Green ZEB2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.59

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • MOWAT-WILSON SYNDROME
    • MOWS

    Green ZEB2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.886
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert Review Green
    Phenotypes
    • Mowat-Wilson syndrome

    Green ZEB2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mowat-Wilson syndrome, 235730
    • MOWAT-WILSON SYNDROME (MWIS)

    Green ZEB2 in Structural eye disease


    Version 0.95

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730