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Genetic epilepsy syndromes

Gene: NDUFS6

Amber List (moderate evidence)

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)
EnsemblGeneIds (GRCh38): ENSG00000145494
EnsemblGeneIds (GRCh37): ENSG00000145494
OMIM: 603848, Gene2Phenotype
NDUFS6 is in 8 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 9, 618232

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least two homozygous variants identified in two unrelated cases with abnormal, slowly drifting eye movements, rolling nystagmus, thought to indicate possible seizures, as well as overt seizures occurred on day 1 of life (PMID: 15372108). Other variants reported, but no association with epilepsy, seizures or convulsions could be found.
Created: 6 Dec 2018, 5:39 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
OMIM
603848
Clinvar variants
Variants in NDUFS6
Penetrance
None
Publications
Panels with this gene

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 NDUFS6.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFS6.

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

Sarah Leigh (Genomics England Curator)

Gene: ndufs6 has been classified as Amber List (Moderate Evidence).

6 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency 252010

6 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFS6 were set to

6 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NDUFS6 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 NDUFS6. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFS6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFS6 was created by Sarah Leigh