| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.232 | NDUFAF8 | Elena Savva Classified gene: NDUFAF8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.232 | NDUFAF8 | Elena Savva Gene: ndufaf8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.231 | NDUFAF8 | Elena Savva Classified gene: NDUFAF8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.231 | NDUFAF8 | Elena Savva Gene: ndufaf8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.230 | NDUFAF8 | Elena Savva Marked gene: NDUFAF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.230 | NDUFAF8 | Elena Savva Gene: ndufaf8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.230 | NDUFAF8 |
Anissa Johnson gene: NDUFAF8 was added gene: NDUFAF8 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to PMID: 31866046; https://doi.org/10.1212/WNL.000000000021206 Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, MIM#618776; Leigh Syndrome MONDO:0009723 Review for gene: NDUFAF8 was set to AMBER Added comment: - Alston 2020: Reported 1 child (subject 1) with Leigh syndrome, who had hypsarrythmic electroencephalogram (EEG) and "regular fleeting seizures". They were compound heterozygous for c.45_52dup (p.Phe18Serfs*32) and c.195+271C>T (p.?), both inherited. - Sharma 2025: Abstract only. Aims to evaluate the presentation of infantile epileptic spasms syndrome (IESS) in primary mitochondrial disease (PMD). Mentions a single case of NDUFAF8 but specific patient information was not provided. - 1 VCGS internal patient who was homozygous for the deep intronic variant, c.195+271C>T, who presented with focal onset seizures and ID, who was also heterozygous for a likely pathogenic variant in SCN8A (paternally inherited). Sources: Literature |
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