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| Malformations of cortical development v3.11 | EMX2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: EMX2. Tag Q2_22_expert_review was removed from gene: EMX2. |
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| Malformations of cortical development v3.11 | EMX2 | Arina Puzriakova reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | EMX2 |
Arina Puzriakova 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) |
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| Malformations of cortical development v2.144 | EMX2 | Sarah Leigh Publications for gene: EMX2 were set to 8528262; 9359037; 18409201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.143 | EMX2 | Sarah Leigh reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 18409201, 17506092; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.143 | EMX2 |
Sarah Leigh Tag Q2_22_rating tag was added to gene: EMX2. Tag Q2_22_expert_review tag was added to gene: EMX2. |
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| Malformations of cortical development v2.51 | EMX2 | Ivone Leong Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.50 | EMX2 | Ivone Leong Publications for gene: EMX2 were set to 8528262; 9359037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.5 | EMX2 | Zornitza Stark changed review comment from: Please note publication disputing gene-disease association.; to: Please note publication disputing gene-disease association. Also note only pathogenic variants in ClinVar are from 1996, all the rest are VOUS/LB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.5 | EMX2 | Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18409201; Phenotypes: Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v1.171 | EMX2 | Louise Daugherty Classified gene: EMX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v1.171 | EMX2 | Louise Daugherty Gene: emx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v1.170 | EMX2 |
Louise Daugherty changed review comment from: From review Rebecca Foulger (Genomics England curator) [email protected] 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; to: 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 |
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| Malformations of cortical development v1.170 | EMX2 |
Louise Daugherty changed review comment from: From review Rebecca Foulger (Genomics England curator) [email protected] I don't know 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; to: From review Rebecca Foulger (Genomics England curator) [email protected] 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 |
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| Malformations of cortical development v1.170 | EMX2 |
Louise Daugherty commented on gene: EMX2: From review Rebecca Foulger (Genomics England curator) [email protected] I don't know 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 |
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| Malformations of cortical development v1.170 | EMX2 |
Louise Daugherty 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 Added comment: 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 |
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