Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Early onset or syndromic epilepsy v1.191 MLC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to MLC1.
Early onset or syndromic epilepsy v1.190 MLC1 Rebecca Foulger Source NHS GMS was added to MLC1.
Early onset or syndromic epilepsy v1.189 MLC1 Rebecca Foulger edited their review of gene: MLC1: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 MLC1 Tracy Lester reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29466841; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts, 604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger Marked gene: MLC1 as ready
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger Gene: mlc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger commented on gene: MLC1: In a woman with megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1; 604004), Lopez-Hernandez et al. (2011, PMID:21624973) identified a homozygous misssense 206C-T variant in the MLC1 gene (p.S69L). The patient had epilepsy amongst her symptoms.
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger Classified gene: MLC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Plus the onset of epileptic seizures is an integral part of the MLC phenotype (PMID:29466841) with plenty of seizure cases in MLC1 patients in PMIDs:29466841 and 21624973.
Early onset or syndromic epilepsy v0.1290 MLC1 Rebecca Foulger Gene: mlc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1289 MLC1 Rebecca Foulger commented on gene: MLC1
Early onset or syndromic epilepsy v0.1289 MLC1 Rebecca Foulger Publications for gene: MLC1 were set to 21624973; 2946684
Early onset or syndromic epilepsy v0.1288 MLC1 Rebecca Foulger commented on gene: MLC1
Early onset or syndromic epilepsy v0.1288 MLC1 Rebecca Foulger Publications for gene: MLC1 were set to
Early onset or syndromic epilepsy v0.1287 MLC1 Rebecca Foulger Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 to Megalencephalic leukoencephalopathy with subcortical cysts, 604004; generalized tonic-clonic seizures; focal seizures
Early onset or syndromic epilepsy v0.1286 MLC1 Rebecca Foulger Mode of inheritance for gene: MLC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1285 MLC1 Rebecca Foulger Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts, 604004
Early onset or syndromic epilepsy MLC1 Zornitza Stark reviewed gene: MLC1
Early onset or syndromic epilepsy MLC1 Sarah Leigh Added gene to panel