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Early onset or syndromic epilepsy v1.458 SCO2 Rebecca Foulger Publications for gene: SCO2 were set to 10545952; 10749987; 18924171
Early onset or syndromic epilepsy v1.457 SCO2 Rebecca Foulger Classified gene: SCO2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.457 SCO2 Rebecca Foulger Gene: sco2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.456 SCO2 Rebecca Foulger commented on gene: SCO2: 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 SCO2 Rebecca Foulger commented on gene: SCO2: PMID:18924171 (Verdijk et al, 2008) report compound het SOC2 variants (E140K and W36X) in 2 siblings with fatal infantile cardioencephalomyopathy. The index patient had convulsions age 1 day and died of heart failure age 25 days. The sibling fetus was terminated at 23 weeks following genetic testing.
Early onset or syndromic epilepsy v1.423 SCO2 Rebecca Foulger commented on gene: SCO2: PMID:10749987 (Jaksch et al., 2000) report 10 patients with fatal hypertrophic cardiomyopathy from 9 families. Mutations in SCO2 (E140K, R171W) were found in 3 patients (2 unrelated families) all of whom had seizures: Table 1.
Early onset or syndromic epilepsy v1.423 SCO2 Rebecca Foulger commented on gene: SCO2: PMID:10545952 (Papadopoulou et al 1999) identified variants in SCO2 in 3 unrelated infants with fatal cardioencephalomyopathy and COX deficiency. Patient 2 had focal epileptiform discharges on an EEG.
Early onset or syndromic epilepsy v1.191 SCO2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SCO2.
Early onset or syndromic epilepsy v1.190 SCO2 Rebecca Foulger Source NHS GMS was added to SCO2.
Early onset or syndromic epilepsy v1.189 SCO2 Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SCO2 Tracy Lester reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15210538; Phenotypes: Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency, 604377, Myopia, 608908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Marked gene: SCO2 as ready
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported as compound heterozygotes in three unrelated cases of Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 in which seizures were a phenotypic feature. It appears from the literature that seizures are not commonly reported in this phenotype (PMIDs 14994243, 12020273).
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Gene: sco2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Classified gene: SCO2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Gene: sco2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1422 SCO2 Sarah Leigh Publications for gene: SCO2 were set to 10545952; 10749987
Early onset or syndromic epilepsy v0.1284 SCO2 Sarah Leigh Mode of inheritance for gene: SCO2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1283 SCO2 Sarah Leigh Publications for gene: SCO2 were set to
Early onset or syndromic epilepsy v0.1282 SCO2 Sarah Leigh Phenotypes for gene: SCO2 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Early onset or syndromic epilepsy SCO2 Zornitza Stark reviewed gene: SCO2
Early onset or syndromic epilepsy SCO2 Sarah Leigh Added gene to panel