Early onset or syndromic epilepsy

Gene: NDUFV1

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

Green List (high evidence)

AR mitochondrial complex I defic nuclear type 4. Schuelke et al, 1999 - 2 brothers with complex 1 defic and variants in this gene. At the age of 5 month they presented with repeated vomitting and developed strabismus, progressive muscular hypotonia, myoclonic epilepsy and psychomotor regression died at 14 and 17 months. Another boy had sim phenotype including infantile myoclonic epilepsy. Benit et al, 2001 - infant first hospitalised with seizures aged 1, died at 3 - compound het variants. 2 other patients compound het but no seizures. Incecik et al, 2018 - reported a 10 year old with ataxia and NDUFV1 mutation - smmarises in last paparagraph reported cases: 3 (2 familes)/10 (8 families) seizures reported but one of these it was first presentation.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least six variants reported in at least three unrelated cases in which seizures are a phenotypic feature.

Created: 6 Dec 2018, 12:35 p.m.

Comment on list classification: Sufficient variants in unrelated cases displaying seizures.

Created: 6 Dec 2018, 12:34 p.m.

Publications

• 25615419

Seizures are part of the phenotype of this mitochondrial disorder.

Created: 17 Aug 2018, 10:32 a.m.

Seizures are part of the phenotype of this mitochondrial disorder.

Created: 17 Aug 2018, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

• 11349233
• 10080174
• 30090137
• 29976978
• 29948731

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