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Early onset or syndromic epilepsy v8.39 EMX2 Arina Puzriakova Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160
Early onset or syndromic epilepsy v8.37 EMX2 Eleanor Williams commented on gene: EMX2
Early onset or syndromic epilepsy v1.383 EMX2 Rebecca Foulger Classified gene: EMX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.383 EMX2 Rebecca Foulger Gene: emx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.382 EMX2 Rebecca Foulger Classified gene: EMX2 as Green List (high evidence)
Early onset or syndromic epilepsy v1.382 EMX2 Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v1.382 EMX2 Rebecca Foulger Gene: emx2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.262 EMX2 Rebecca Foulger commented on gene: EMX2: 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.
Early onset or syndromic epilepsy v1.261 EMX2 Helen Lord reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.256 EMX2 Alison Callaway reviewed gene: EMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.191 EMX2 Rebecca Foulger Source Wessex and West Midlands GLH was added to EMX2.
Early onset or syndromic epilepsy v1.190 EMX2 Rebecca Foulger Source NHS GMS was added to EMX2.
Early onset or syndromic epilepsy v1.189 EMX2 Rebecca Foulger edited their review of gene: EMX2: Added comment: 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.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 EMX2 Tracy Lester reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Schizencephaly, 269160; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.173 EMX2 Rebecca Foulger changed review comment from: 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 EMX2 variants (patients VF, MB and PB).; to: 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).
Early onset or syndromic epilepsy v0.1221 EMX2 Rebecca Foulger Marked gene: EMX2 as ready
Early onset or syndromic epilepsy v0.1221 EMX2 Rebecca Foulger Gene: emx2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1221 EMX2 Rebecca Foulger Classified gene: EMX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1221 EMX2 Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v0.1221 EMX2 Rebecca Foulger Gene: emx2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1220 EMX2 Rebecca Foulger commented on gene: EMX2: 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 EMX2 variants (patients VF, MB and PB).
Early onset or syndromic epilepsy v0.1220 EMX2 Rebecca Foulger Added comment: Comment on mode of inheritance: Monoallelic MOI supported by Gene2Phenotype, which provide a 'possible' rating for Familial Schizencephaly.
Early onset or syndromic epilepsy v0.1220 EMX2 Rebecca Foulger Mode of inheritance for gene: EMX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1218 EMX2 Rebecca Foulger commented on gene: EMX2
Early onset or syndromic epilepsy v0.1218 EMX2 Rebecca Foulger Publications for gene: EMX2 were set to
Early onset or syndromic epilepsy v0.1217 EMX2 Rebecca Foulger commented on gene: EMX2
Early onset or syndromic epilepsy v0.1216 EMX2 Rebecca Foulger Phenotypes for gene: EMX2 were changed from to Schizencephaly, 269160
Early onset or syndromic epilepsy EMX2 Zornitza Stark reviewed gene: EMX2
Early onset or syndromic epilepsy EMX2 Sarah Leigh Added gene to panel