Early onset or syndromic epilepsy

Gene: NDUFAF5

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 1 defic - nuclear type 16. Simon et al, 2019 - 5 families prev reported with NDUFAF5 mutations. In this paper report another 4 additional non-consang families. In the supplementary table 1 seizures reported in 4/14 unrelated individuals from 8 families (not recorded/reported in two families. Some functional work done.

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

Panel Version: 1.188

Comment on list classification: Variants in this gene reported in more than 3 families with affected individuals. Seizures seen in 5 families.

Created: 6 Dec 2018, 11:08 a.m.

Associated with Mitochondrial complex 1 deficiency in OMIM but not Gene2phenotype.

9 families of different ethnicities have been reported with homozygous mutations in NDUFAF5 (C20orf7) (PMID: 18940309, 19542079, 21607760, 29581464, 30473481). 7 different variants. Seizures were noted in 5 unrelated patients (in PMIDs: 21607760, 29581464, 30473481).

Created: 5 Dec 2018, 8:38 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.

Created: 17 Aug 2018, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex 1 deficiency, MIM#252010

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