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Genetic epilepsy syndromes

Gene: EMX2

Amber List (moderate evidence)

EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 4 panels

5 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

I don't know

EMX2 is green on the malformations of cortical development panel and since schizencephaly is a developmental birth defect characterised by abnormal slits and clefts in the cerebral hemispheres of the brain - I think it would be more appropriate to be on this panel than on the epilepsy panel and no new evidence from previous review so sticking with amber rating.
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Green List (high evidence)

There is an association between schizencephaly and epilepsy/seizures; did not find further recent literature in addition to what has already been included in reviews below, which appear to meet the PanelApp criteria for a green gene.
Created: 23 Aug 2019, 10:10 a.m. | Last Modified: 23 Aug 2019, 10:10 a.m.
Panel Version: 1.256

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Schizencephaly - seizures more common with type II. Brunelli et al, 1996 - 3/8 patients with severe schizencephaly were het for diff mutations in EMX2 (type II) - no clinical info provided. Faiella et al, 1997 - 10 additional patients including 2 brothers - 6 het for de novo EMX2 variants - 3 of these (unrelated) had epilepsy. Of note on OMIM they go on to say that other studies with large cohorts of patients with schizencephaly - Tietjen et al, 2007, Merello et al, 2008, Hehr et al, 2010 - no variants identified in this gene and Brunelli and Faiella are part of the same group - ? the functional significance of EMX2 variants and schizencephaly.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Schizencephaly, 269160

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted EMX2 from Green to Amber based on the Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy, and the post-Webex review by Helen Lord. The Schizencephaly phenotype is more appropriate for the ID/Cortical malformations panel, and EMX2 has now been added as a Green gene to 'Malformations of cortical development' (#96) panel.
Created: 24 Oct 2019, 12:38 p.m. | Last Modified: 24 Oct 2019, 12:38 p.m.
Panel Version: 1.382
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and 3 cases of Schizencephaly patients with EMX2 variants and partial epilepsy in PMID:9359037. PMID:15921232 (2005) report that half of Schizencephaly patients show epilepsy. Therefore sufficient evidence for inclusion on panel.
Created: 29 Nov 2018, 11:05 a.m.
Faiella et al., 1997 (PMID:9359037) summarise 10 patients with Schizencephaly. 6 patients were heterozygous for de novo variants in EMX2 (including 2 brothers). 3 of these unrelated patients have partial epilepsy (patients VF, MB and PB).
Created: 29 Nov 2018, 11:03 a.m. | Last Modified: 22 Jul 2019, 12:16 p.m.
Panel Version: 1.173
Comment on mode of inheritance: Monoallelic MOI supported by Gene2Phenotype, which provide a 'possible' rating for Familial Schizencephaly.
Created: 29 Nov 2018, 11 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this brain development disorder.
Created: 13 Aug 2018, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schizencephaly, MIM#269160

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly, 269160
OMIM
600035
Clinvar variants
Variants in EMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: emx2 has been classified as Amber List (Moderate Evidence).

24 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: emx2 has been classified as Green List (High Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EMX2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EMX2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of this

29 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: emx2 has been classified as Green List (High Evidence).

29 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: emx2 has been classified as Green List (High Evidence).

29 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: EMX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EMX2 were set to

29 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: EMX2 were changed from to Schizencephaly, 269160

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EMX2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EMX2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EMX2 was created by Sarah Leigh