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Malformations of cortical development

Gene: EMX2

Amber List (moderate evidence)
EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 5 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Sarah Leigh (Genomics England Curator)

I don't know

Based on Zornitza Stark (Australian Genomics) review (28 Apr 2020), which questions association between EMX2 variants and Schizencephaly (OMIM:269160)(PMID:18409201 & PMID:17506092) should this gene be demoted on this and other panels?
Created: 23 May 2022, 2:55 p.m. | Last Modified: 23 May 2022, 2:55 p.m.
Panel Version: 2.143

Phenotypes
18409201; 17506092

Created: 23 May 2022, 2:55 p.m.
Last Modified: 23 May 2022, 2:55 p.m.
Panel version: 2.143

Zornitza Stark (Australian Genomics)

I don't know

Please note publication disputing gene-disease association. Also note only pathogenic variants in ClinVar are from 1996, all the rest are VOUS/LB.
Created: 28 Apr 2020, 6:56 a.m. | Last Modified: 28 Apr 2020, 6:57 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schizencephaly, 269160

Publications

Created: 28 Apr 2020, 6:56 a.m.
Last Modified: 28 Apr 2020, 6:57 a.m.
Panel version: 2.5

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

From review Rebecca Foulger (Genomics England curator) Review from Genetic epilepsy syndromes panel:
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
Created: 12 Aug 2019, 12:04 p.m. | Last Modified: 12 Aug 2019, 12:04 p.m.
Panel Version: 1.170
Due to a webex to discuss R59 (https://panelapp.genomicsengland.co.uk/panels/489/) on Aug 8th 2019 (RF, EM, RS with WWMGLH), some discussion points overlapped with additional panels and it was agreed that EMX2 should be added to the : Malformations of cortical development panel : https://panelapp.genomicsengland.co.uk/panels/96/ which a component of the GMS Super panels: https://panelapp.genomicsengland.co.uk/panels/96/ and Cerebral malformations (https://panelapp.genomicsengland.co.uk/panels/491/)
Phenotype is: Schizencephaly
Sources: Other
Created: 12 Aug 2019, 12:02 p.m.

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

Phenotypes
Schizencephaly, 269160

Publications

Created: 12 Aug 2019, 12:02 p.m.
Last Modified: 12 Aug 2019, 12:04 p.m.
Panel version: 1.170

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • Schizencephaly, OMIM:269160
OMIM
600035
Clinvar variants
Variants in EMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating was removed from gene: EMX2. Tag Q2_22_expert_review was removed from gene: EMX2.

1 Feb 2023, Gel status: 2

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to EMX2. Source Expert Review Amber was added to EMX2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

23 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EMX2 were set to 8528262; 9359037; 18409201

23 May 2022, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: EMX2. Tag Q2_22_expert_review tag was added to gene: EMX2.

17 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

17 Aug 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: EMX2 were set to 8528262; 9359037

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

12 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: EMX2 was added gene: EMX2 was added to Malformations of cortical development. Sources: Other Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EMX2 were set to 8528262; 9359037 Phenotypes for gene: EMX2 were set to Schizencephaly, 269160 Review for gene: EMX2 was set to GREEN