| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.121 | MT-ND5 | Bryony Thompson Marked gene: MT-ND5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.121 | MT-ND5 | Bryony Thompson Gene: mt-nd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.121 | MT-ND5 | Bryony Thompson Classified gene: MT-ND5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.121 | MT-ND5 | Bryony Thompson Gene: mt-nd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.120 | MT-ND5 |
Bryony Thompson gene: MT-ND5 was added gene: MT-ND5 was added to Ataxia. Sources: Literature Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL Publications for gene: MT-ND5 were set to 35719398; 34025555; 29506874 Phenotypes for gene: MT-ND5 were set to Leber hereditary optic neuropathy, MONDO:0010788; MELAS syndrome, MONDO:0010789; Mitochondrial disease, MONDO:0044970 Review for gene: MT-ND5 was set to GREEN Added comment: MT-ND5 encodes a subunit of mitochondrial Complex I and pathogenic variants are linked to a spectrum of mitochondrial disorders that can feature cerebellar ataxia, a core phenotype for the Ataxia panel. Ng2018 reports six individuals from five families with a maternally inherited m.13094T>C (p.Val253Ala) variant presenting with progressive cerebellar ataxia; the cohort provides five independent families. Barone2022 describes a single case with the heteroplasmic m.13513G>A (p.D393N) variant causing Leber hereditary optic neuropathy together with adult‑onset nephropathy, sensorineural deafness and cerebellar atrophy. Wei2021 aggregates six individuals from six families harbouring the recurrent m.13513G>A variant with MELAS/Leigh overlap syndrome, where ataxia is a prominent feature of the Leigh component. Sources: Literature |
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