Early onset or syndromic epilepsy

Gene: NDUFAF4

I don't know

Amber ratings from Tracy Lester and Zornitza Stark support the current Amber rating of NDUFAF4.

Created: 8 Oct 2019, 10:06 a.m. | Last Modified: 8 Oct 2019, 10:06 a.m.

Panel Version: 1.363

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

I don't know

better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated and there are very few disease associated variants in the literature. There is a case report of a child born to consanguinous parents with episodic seizures and Leigh syndrome, PMID 28853723.

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 15, 618237

Publications

• 19463981
• 28853723

I don't know

Seizures are part of the phenotype of this mitochondrial disorder. However, only two families reported.

Created: 17 Aug 2018, 9:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

• 28853723
• 19463981

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