Early onset or syndromic epilepsy
Gene: NDUFS2
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.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
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.
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
Source Wessex and West Midlands GLH was added to NDUFS2.
Source NHS GMS was added to NDUFS2.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency 252010
Publications for gene: NDUFS2 were set to
Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to NDUFS2. Panel: Genetic Epilepsy Syndromes
NDUFS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFS2 was created by Sarah Leigh