Severe microcephaly

Gene: ZEB2

Green List (high evidence)

ZEB2 (zinc finger E-box binding homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 13 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Microcephaly seen in 80% patients -usually present at birth although may be acquired
12 Jan 2017, 11:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome 235730

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Mowat-Wilson syndrome 235730
OMIM
605802
Clinvar variants
Variants in ZEB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

ZEB2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

ZEB2 was created by agardham