Genetic epilepsy syndromesGene: NDUFA11
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
? 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
Mitochondrial complex I deficiency, nuclear type 14, 618236
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.
Source Wessex and West Midlands GLH was added to NDUFA11.
Source NHS GMS was added to NDUFA11.
Sarah Leigh: Comment when marking as ready:
Gene: ndufa11 has been classified as Red List (Low Evidence).
Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFA11 were set to
Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010
Expert Review Amber was added to NDUFA11. Panel: Genetic Epilepsy Syndromes
NDUFA11 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFA11 was created by Sarah Leigh