Malformations of cortical development
Gene: EMX2
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
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
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
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: 1.173Created: 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: OtherCreated: 12 Aug 2019, 12:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schizencephaly, 269160
Publications
Tag Q2_22_rating was removed from gene: EMX2. Tag Q2_22_expert_review was removed from gene: EMX2.
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)
Publications for gene: EMX2 were set to 8528262; 9359037; 18409201
Tag Q2_22_rating tag was added to gene: EMX2. Tag Q2_22_expert_review tag was added to gene: EMX2.
Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160
Publications for gene: EMX2 were set to 8528262; 9359037
Gene: emx2 has been classified as Green List (High Evidence).
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