Polymicrogyria and Schizencephaly
Gene: EMX2

EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 6 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

I don't know

This gene has been associated with schizencephaly based on papers in 1996-1997:

PMID: 8528262 – 1996 3 unrelated patients have a variant in EMX2 detected by SSCP.

PMID: 9359037 – 1997 2 patients with splicing variants in EMX2 with schizencephaly. A further 2 have synonymous variants and a further 2 have intronic SNPs in EMX2.

PMID: 9153481 – 1997 2 brothers with a heterozygous missense mutation in EMX2 with severe schizencephaly.

PMID: 17506092 – 2007 no EMX2 mutations detected in 84 probands with schizencephaly

PMID: 18409201 – 2008 group of experts published a manuscript entitled “No major role for the EMX2 gene in Schizencephaly” including experts from Chicago, Melbourne, Italy.

There is conflicting evidence in the literature for this gene and no recent publications.
Created: 28 Apr 2020, 2:23 a.m. | Last Modified: 28 Apr 2020, 2:23 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schizencephaly MIM# 269160

Publications

Created: 28 Apr 2020, 2:23 a.m.
Last Modified: 28 Apr 2020, 2:23 a.m.
Panel version: 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Schizencephaly MIM# 269160

Tags

disputed

OMIM

600035

Clinvar variants

Variants in EMX2

Penetrance

None

Publications

Panels with this gene