Early onset or syndromic epilepsy
Gene: NDUFA10
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
AR mitochondrial complex 1 defic - nuclear type 22. Hoefs et al, 2011 - convulsions - compound het - western blotting and immunoblotting done. Kohda et al, 2016 - Leighs disease - no mention of seizures/epilepsy in supp data - compound het for a missense and a fs, Western blotting done. Minoia et al, 2017 - Italian boy with consang parents with Leigh syndrome. No mention of epilepsy/seizures in him but does have a family history where a pat cousin died at 4 months from an unspecified cardiomyopathy, two mat cousins had an unspecified myopathy and another cousin had EIEE - hom missense variant in boy, both parents carriers. Not sure if other possibly affected family members have had any genetic testing so is the EIEE unrelated?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 22, 618243
Publications
Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype have confirmed that NDUFA10 is associated with Leigh syndrome, and both have listed seizures as a phenotype.
There are 3 studies (PMID: 21150889; 26741492; 28247337) reporting 3 patients who have different variants in the NDUFA10 gene and have seizures.Created: 27 Nov 2018, 5 p.m.
Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype confirm that NDUFA10 is associated with Leigh syndrome and both databases list seizures as a phenotype.
There are 3 studies (PMID: 21150889, 26741492, 28247337) describing 3 patients who have different variants in NDUFA10 who have seizures.Created: 27 Nov 2018, 4:59 p.m.
Seizures are part of the phenotype of this mitochondrial disorder.Created: 17 Aug 2018, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, MIM#256000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NDUFA10.
Source NHS GMS was added to NDUFA10.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufa10 has been classified as Green List (High Evidence).
Gene: ndufa10 has been classified as Green List (High Evidence).
Gene: ndufa10 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFA10 were set to
Mode of inheritance for gene: NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were changed from to Leigh syndrome, 256000
Expert Review Amber was added to NDUFA10. Panel: Genetic Epilepsy Syndromes
NDUFA10 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFA10 was created by Sarah Leigh