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Early onset or syndromic epilepsy v1.191 SUCLG1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SUCLG1.
Early onset or syndromic epilepsy v1.190 SUCLG1 Rebecca Foulger Source NHS GMS was added to SUCLG1.
Early onset or syndromic epilepsy v1.189 SUCLG1 Rebecca Foulger edited their review of gene: SUCLG1: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 SUCLG1 Tracy Lester reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26028457; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger Tag watchlist tag was added to gene: SUCLG1.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy was much more frequent in patients with SUCLA2 mutations compared to patients with SUCLG1 mutations: Only 1 patient with the SUCLG1 variant had epilepsy.
Early onset or syndromic epilepsy v0.811 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy reported as generalized seizures, unspecified epilesy or infantile spasms was mainly reported in patients with SUCLA2 variants. Only 1 patient with the SUCLG1 variant had epilepsy (5%). At least 3 cases of epilepsy listed in new patients with SUCLA2 variants (supplementary material).
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Marked gene: SUCLG1 as ready
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment when marking as ready: Marked as Ready: November 13th 2018.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:22231385 (Honzik et al 2012) report 1 patient with SUCLG1 variant, who did not have seizures.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Classified gene: SUCLG1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Confirmed DD-G2P gene for FATAL INFANTILE LACTIC ACIDOSIS. Although patients with SUCLG1 variants can report with seizures (1 of 3 patients in PMID:26028457 plus EEG abnormalities in PMID:27484306), there are currently insufficient cases to rate as diagnostic.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:28358460 gives an overview of treatment of seizures when present in SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Seizures are not reported in the clinical phenotype of patients in PMIDs 17668387, 19526370 and 20693550, which report patients with SUCLG1 variants.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Added comment: Comment on publications: PMID:27143079 article is in Chinese. See PMID:26028457 for a description of the same patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to 28358460; 27143079; 26028457; 27484306
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26028457 (Liu et al 2016) report 3 unrelated Chinese patients with severe psychomotor retardation, hypotonia, dystonia and athetoid movements, and homozygous/compound het variants in SUCLG1. Patient 2 had Epilepsy (Table 1).
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to
Early onset or syndromic epilepsy v0.780 SUCLG1 Rebecca Foulger Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.779 SUCLG1 Rebecca Foulger Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Early onset or syndromic epilepsy SUCLG1 Zornitza Stark reviewed gene: SUCLG1
Early onset or syndromic epilepsy SUCLG1 Sarah Leigh Added gene to panel