Early onset or syndromic epilepsy
Gene: NDUFS7
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
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
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.
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
Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Source Wessex and West Midlands GLH was added to NDUFS7.
Source NHS GMS was added to NDUFS7.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: NDUFS7.
Mode of inheritance for gene: NDUFS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS7 were set to
Expert Review Amber was added to NDUFS7. Panel: Genetic Epilepsy Syndromes
NDUFS7 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFS7 was created by Sarah Leigh