| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2028 | NDUFA8 | Lauren Rogers reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37 - 619272, Epilepsy, Microcephaly, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1335 | NDUFA8 | Zornitza Stark Marked gene: NDUFA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1335 | NDUFA8 | Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1335 | NDUFA8 | Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1335 | NDUFA8 | Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | NDUFA8 |
Krithika Murali gene: NDUFA8 was added gene: NDUFA8 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911; 33153867 Phenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37 - 619272; Epilepsy; Microcephaly; Developmental Delay Review for gene: NDUFA8 was set to AMBER Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data. 1 sibling had seizures. Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. Seizures reported. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||