Early onset or syndromic epilepsy
Gene: NDUFAF5
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 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.
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
Source Wessex and West Midlands GLH was added to NDUFAF5.
Source NHS GMS was added to NDUFAF5.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufaf5 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex 1 deficiency 252010
Publications for gene: NDUFAF5 were set to
Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufaf5 has been classified as Green List (High Evidence).
Expert Review Amber was added to NDUFAF5. Panel: Genetic Epilepsy Syndromes
NDUFAF5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFAF5 was created by Sarah Leigh