Early onset or syndromic epilepsy
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.Created: 25 Nov 2019, 9:07 p.m. | Last Modified: 25 Nov 2019, 9:07 p.m.
Panel Version: 1.455
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).Created: 21 Nov 2019, 4:20 p.m. | Last Modified: 21 Nov 2019, 4:20 p.m.
Panel Version: 1.423
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.Created: 21 Nov 2019, 4:16 p.m. | Last Modified: 21 Nov 2019, 4:20 p.m.
Panel Version: 1.423
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).Created: 21 Nov 2019, 4:09 p.m. | Last Modified: 21 Nov 2019, 4:16 p.m.
Panel Version: 1.422
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 and Helen Lord. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
little evidence to support seizures, however, SCO1 have been reported in patients with mito cytochrome c Oxidase deficiency.AR mitochondrial complex IV defic - 3 reported cases - Valnot et al, 2000, Stiburek et al, 2009 & Leary et al, 2003 - none of these papers mention seizures/epilepsy as part of the phenotype.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Publications
Seizures are part of the phenotype of this mitochondrial disorder.Created: 21 Aug 2018, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, MIM#220110
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Gene: sco1 has been classified as Amber List (Moderate Evidence).
Publications for gene: SCO1 were set to 23878101; 11013136; 19295170
Source Wessex and West Midlands GLH was added to SCO1.
Source NHS GMS was added to SCO1.
Zornitza Stark: Seizures are part of the pheno
Gene: sco1 has been classified as Green List (High Evidence).
Gene: sco1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, 220110
Publications for gene: SCO1 were set to 23878101; 11013136; 19295170
Publications for gene: SCO1 were set to
Mode of inheritance for gene: SCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to SCO1. Panel: Genetic Epilepsy Syndromes
SCO1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SCO1 was created by Sarah Leigh