Early onset or syndromic epilepsy

Gene: NDUFA11

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: 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 pathway for analysis - mitoAR mitochondrial complex 1 defic - nuclear type 14. Berger et al, 2008 - 3 consang families of Israeli-Bedouin origin in which 6 offspring had severe mito complex 1 defic. 3 of the aff children presented with a fatal infantile metabolic acidosis with death between 6-40 days. Aff children in 1 family survived beyond infancy but deverloped severe encephalocardiomyopathy with brain atrophy, no motor development and HCM. Hom splice variant identified in all - paper mentions 1 child had a convulsive disorder appear at 4 months of age. No mention on OMIM of an epilepsy phenotype.

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 14, 618236

Publications

• 18306244

Comment on list classification: Based on single case and the observation that not all the carriers manifested with convulsive disorder

Created: 6 Dec 2018, 4:14 p.m.

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one homozygous variant identified in a large consanguineous Bedoin family, convulsive disorder appeared at 4 months in one patient (PMID 18306244).

Created: 6 Dec 2018, 4:13 p.m.