| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3176 | MT-ND4L | Zornitza Stark Marked gene: MT-ND4L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3176 | MT-ND4L | Zornitza Stark Gene: mt-nd4l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3176 | MT-ND4L | Zornitza Stark Classified gene: MT-ND4L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3176 | MT-ND4L | Zornitza Stark Gene: mt-nd4l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3175 | MT-ND4L |
Zornitza Stark gene: MT-ND4L was added gene: MT-ND4L was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-ND4L. Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL Publications for gene: MT-ND4L were set to 8680405; 11935318; 17003408; 22879922; 24568867 Phenotypes for gene: MT-ND4L were set to Mitochondrial disease (MONDO:0044970), MT-ND4L-related Review for gene: MT-ND4L was set to AMBER Added comment: LIMITED by ClinGen. Seven probands with m.10063T>C have been reported across five publications, all of whom had LHON. These cases were scored with reduced points by ClinGen given the mild impact this variant has been shown to have on complex I function. While three other missense variants (m.10543A>G, m.10591T>G, m.10680G>A) have been reported, the ClinGen Expert Panel agreed there was only sufficient evidence of pathogenicity for the m.10663T>C variant. Cases with m.10680G>A and m.10543A>G and m.10591T>G were reviewed but excluded from scoring due to a lack of compelling functional evidence to support pathogenicity. The m.10543A>G variant has been modeled in E. coli and showed a very mild reduction in NADH dehydrogenase activity (74% of control), which was not sufficient to be included in scoring. Sources: Expert list |
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