Fetal anomalies
Gene: EMX2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Approximately 10 individuals reported in 1995-97 with variants in this gene and schizencephaly; however, note association has been disputed in subsequent publications. Also note, only P/LP variants in ClinVar are from 1996, all others are VOUS/LB.
Created: 29 Apr 2020, 4:57 a.m. | Last Modified: 29 Apr 2020, 4:57 a.m.

Panel Version: 0.2605

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schizencephaly, MIM# 269160

Publications

Created: 29 Apr 2020, 4:57 a.m.
Last Modified: 29 Apr 2020, 4:57 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2605

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: Imported from Polymicrogyria and Schizencephaly panel version 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Schizencephaly, MIM# 269160

Tags

disputed

OMIM

600035

Clinvar variants

Variants in EMX2

Penetrance

None

Publications

Panels with this gene