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Early onset or syndromic epilepsy v2.216 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Early onset or syndromic epilepsy v1.456 SCO1 Rebecca Foulger Classified gene: SCO1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.456 SCO1 Rebecca Foulger Gene: sco1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.455 SCO1 Rebecca Foulger commented on gene: SCO1: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.423 SCO1 Rebecca Foulger commented on gene: SCO1: PMID:22231385 (Honzik et al., 2012) summarise 461 patients with mitochondrial disorders. One patient had a variant in SCO1: seizures were not a feature (Table 2, Stiburek et al., 2009).
Early onset or syndromic epilepsy v1.423 SCO1 Rebecca Foulger changed review comment from: PMID:15023375 report an 8-week old infant who presented with neonatal seizures and limb malformations. There were multiple seizure types, including multifocal myoclonus, complex partial events and generalised tonic–clonic episodes. Treatment of seizures was of limited success. The specific defect seen in the patient was a complex IV deficiency. Although no known variants were identified, the clinical picture overlaps with the SCO1 presentation.; to: PMID:15023375 (Kurian et al., 2004) report an 8-week old infant who presented with neonatal seizures and limb malformations. There were multiple seizure types, including multifocal myoclonus, complex partial events and generalised tonic–clonic episodes. Treatment of seizures was of limited success. The specific defect seen in the patient was a complex IV deficiency. Although no known variants were identified, the clinical picture overlaps with the SCO1 presentation.
Early onset or syndromic epilepsy v1.423 SCO1 Rebecca Foulger Publications for gene: SCO1 were set to 23878101; 11013136; 19295170
Early onset or syndromic epilepsy v1.422 SCO1 Rebecca Foulger changed review comment from: PMID:23878101 (Leary et al., 2013) report compound het variants in SCO1 in a patient with fatal encephalopathy. The patient developed seizures age 4 months which were difficult to control. He died age 5 months (Supporting information).; to: PMID:23878101 (Leary et al., 2013) report compound het variants in SCO1 in a patient with fatal encephalopathy. The patient developed seizures age 4 months which were difficult to control. He died age 5 months (seizure information and extended clinical phenotype is the supporting information).
Early onset or syndromic epilepsy v1.422 SCO1 Rebecca Foulger commented on gene: SCO1: PMID:15023375 report an 8-week old infant who presented with neonatal seizures and limb malformations. There were multiple seizure types, including multifocal myoclonus, complex partial events and generalised tonic–clonic episodes. Treatment of seizures was of limited success. The specific defect seen in the patient was a complex IV deficiency. Although no known variants were identified, the clinical picture overlaps with the SCO1 presentation.
Early onset or syndromic epilepsy v1.422 SCO1 Rebecca Foulger commented on gene: SCO1: PMID:23878101 (Leary et al., 2013) report compound het variants in SCO1 in a patient with fatal encephalopathy. The patient developed seizures age 4 months which were difficult to control. He died age 5 months (Supporting information).
Early onset or syndromic epilepsy v1.191 SCO1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SCO1.
Early onset or syndromic epilepsy v1.190 SCO1 Rebecca Foulger Source NHS GMS was added to SCO1.
Early onset or syndromic epilepsy v1.189 SCO1 Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SCO1 Tracy Lester reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268667, 11013136 ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1281 SCO1 Sarah Leigh Classified gene: SCO1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1281 SCO1 Sarah Leigh Gene: sco1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1280 SCO1 Sarah Leigh Marked gene: SCO1 as ready
Early onset or syndromic epilepsy v0.1280 SCO1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases
Early onset or syndromic epilepsy v0.1280 SCO1 Sarah Leigh Gene: sco1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1280 SCO1 Sarah Leigh Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, 220110
Early onset or syndromic epilepsy v0.1279 SCO1 Sarah Leigh Publications for gene: SCO1 were set to 23878101; 11013136; 19295170
Early onset or syndromic epilepsy v0.1279 SCO1 Sarah Leigh Publications for gene: SCO1 were set to
Early onset or syndromic epilepsy v0.1278 SCO1 Sarah Leigh Mode of inheritance for gene: SCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy SCO1 Zornitza Stark reviewed gene: SCO1
Early onset or syndromic epilepsy SCO1 Sarah Leigh Added gene to panel