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Genetic epilepsy syndromes

Gene: SCO1

Amber List (moderate evidence)

SCO1 (SCO1, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000133028
EnsemblGeneIds (GRCh37): ENSG00000133028
OMIM: 603644, Gene2Phenotype
SCO1 is in 15 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sco1 has been classified as Amber List (Moderate Evidence).

21 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SCO1 were set to 23878101; 11013136; 19295170

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCO1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCO1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

30 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sco1 has been classified as Green List (High Evidence).

30 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sco1 has been classified as Amber List (Moderate Evidence).

30 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, 220110

30 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCO1 were set to 23878101; 11013136; 19295170

30 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCO1 were set to

30 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to SCO1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCO1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SCO1 was created by Sarah Leigh