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 1.205

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 1.72

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 1.178

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

Red ZEB2 in Hereditary spastic paraplegia - adult onset


Version 0.155

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

Red ZEB2 in Neurodegenerative disorders - adult onset


Version 1.106

review Unknown
Sources
  • Expert Review Red

Green ZEB2 in Fetal anomalies


Version 0.344

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 1.81

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

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 1.336

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 2.1039

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 0.88

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