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Genetic epilepsy syndromes

Gene: NDUFS8

Green List (high evidence)

NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)
EnsemblGeneIds (GRCh38): ENSG00000110717
EnsemblGeneIds (GRCh37): ENSG00000110717
OMIM: 602141, Gene2Phenotype
NDUFS8 is in 15 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: John Taylor and Helen Lord. Suggested gene rating: Green.
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)

Green List (high evidence)

AR mitochondrial complex I defic nuclear type 2. Haack et al, 2012 - 3 patients including 2 sibs with complex I defic. One of the patients had epilepsy - hom variant detected, other unrelated indivdual was compound het, functional studies done. Loeffen et al, 1998 - 5 week old - erratic seizures. In the Della Marina et al, 2013 paper - talbe of patients with reported mutations in this gene so far: 2/10 reported withe pilepsy as part of clinical phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Promoted to Green due to evidence of a seizures/epilepsy phenotype in two unrelated cases with variants in this gene.
Created: 11 Dec 2018, 2:16 p.m.
Comment on publications: PMID: 22499348 - of three patients (2 related) reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome...this patient also had a homozygous variant in NDUFS7, however the variant in NDUFS8 was attributed to the disease as their affected sister also carried this homozygous variant. She had a clinical diagnosis of Leigh syndrome, decribed with Muscular hypotonia, lactic acidosis blood and CSF, MRI lesions basal ganglia and brainstem, hypertrophic cardiomyopathy (seizures or epilepsy were not mentioned). In the other unrelated case, a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy was given, with Muscular hypotonia, respiratory insufficiency as other features.
Created: 11 Dec 2018, 2:11 p.m.
Comment on publications: PMID: 9837812 - erratic seizures reported in a case who was compound heterozygous for variants in NDUFS8 "At admission, the main symptoms were mild cyanosis, severe hypercarbia, a cardiac murmur, drowsiness with absent optical and acoustical blink, eye flutter, intense hypotonia, brisk tendon reflexes with ankle clonus, and erratic seizures".
Created: 11 Dec 2018, 1:56 p.m.
Comment on publications: PMID: 15159508 - does not mention seizures in the case.
Created: 11 Dec 2018, 1:50 p.m.
Comment on list classification: Curated in OMIM for Leigh syndrome due to mitochondrial complex I deficiency and in Gene2Phenotype for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, which include seizures as a phenotype.
Created: 11 Dec 2018, 1:46 p.m.

Zornitza Stark (Australian Genomics)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000

Publications

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

History Filter Activity

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NDUFS8 were changed from Mitochondrial complex I deficiency, nuclear type 2, 618222 to Mitochondrial complex I deficiency, nuclear type 2, 618222; Leigh syndrome due to mitochondrial complex I deficiency

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFS8.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFS8.

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

11 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufs8 has been classified as Green List (High Evidence).

11 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufs8 has been classified as Green List (High Evidence).

11 Dec 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFS8 were set to

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufs8 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 NDUFS8. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFS8 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFS8 was created by Sarah Leigh