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Genetic epilepsy syndromes

Gene: NDUFS2

Amber List (moderate evidence)

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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.
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

better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated. There are reports of disease-causing variants being associated with complex I deficiency.
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 I deficiency, nuclear type 6, 618228

Publications

Eleanor Williams (Genomics England Curator)

Comment on list classification: Keep as Amber. Although there are sufficient cases to associate this gene with Mitochondrial complex I deficiency there is only 1 report of a patient with seizures.
Created: 6 Dec 2018, 1:24 p.m.
Associated with Mitochondrial complex I deficiency in OMIM but not Gene2Phenotype.

Reports of cases of individuals with Mitochondrial complex I deficiency and variants in NDUFS2 come from PMID: 23266820, 22036843,20819849, 11220739, 14749350. However, there are no reports of epilepsy/seizures as part of the clinical phenotype except in PMID: 20819849 - reports compound heterogzyous variants in NDUFS2 in 1 patient that had seizures (patient 19).
Created: 6 Dec 2018, 1:23 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 10:04 a.m.

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFS2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFS2.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

6 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ndufs2 has been classified as Amber List (Moderate Evidence).

6 Dec 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency 252010

6 Dec 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NDUFS2 were set to

6 Dec 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ndufs2 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFS2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFS2 was created by Sarah Leigh