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Genetic epilepsy syndromes

Gene: NDUFS7

Amber List (moderate evidence)

NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 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. There is a case report of two brothers with complex I/Leigh syndrome and generalised tonic-clonic seizures, PMID 17275378.
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 3, 618224

Ellen McDonagh (Genomics England Curator)

Though variants in this gene cause Leigh syndrome, there does not seem to be enough evidence for variants in this gene to be directly attributed to seizures/epilepsy from these publications.
Created: 11 Dec 2018, 1:41 p.m.
PMID: 10330338 - seizures not mentioned in the patients reported with NDUFS7.
Created: 11 Dec 2018, 1:38 p.m.
Publications with cases reported - PMID: 17604671 and 17275378 both by Lebon et al, 2007; one publication does not mention seizures in the patient, and the other mentions a generalized tonicoclonic seizures after presenting with an acute episode of respiratory distress initially ascribed to an acute laryngitis and having received cortisone.
Created: 11 Dec 2018, 1:35 p.m.

Zornitza Stark (Australian Genomics)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome, MIM#256000

Publications

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

History Filter Activity

21 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFS7.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFS7.

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

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufs7 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist tag was added to gene: NDUFS7.

11 Dec 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: NDUFS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFS7 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFS7. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFS7 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFS7 was created by Sarah Leigh