| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v0.1077 | MT-TY | Zornitza Stark Phenotypes for gene: MT-TY were changed from Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy to Mitochondrial disease (MONDO:0044970), MT-TY-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1076 | MT-TY | Zornitza Stark Publications for gene: MT-TY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1075 | MT-TY |
Zornitza Stark edited their review of gene: MT-TY: Added comment: DEFINITIVE by ClinGen. Multiple individuals reported. Age of onset in affected individuals is variable and clinical features seen include myopathy with or without ophthalmoplegia. There is at least one case report with a more severe phenotype with neuropathy, ataxia, seizures, myoclonus, sensorineural hearing loss, and pigmentary retinopathy. Muscle biopsy in affected individuals has shown COX-negative and ragged red fibers, with variable mitochondrial respiratory chain enzyme deficiencies. The variants in affected individuals are often present at highest heteroplasmy levels in muscle and may be undetectable in other tissues such as blood and buccal tissue. Multiple single fiber studies were performed in these patients and supportive of variant pathogenicity; Changed publications: 11071502, 11756614, 11594340, 33279411, 30643656, 32684384, 32485333, 33279411; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TY-related |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TY | Zornitza Stark Marked gene: MT-TY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TY | Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TY |
Zornitza Stark Tag somatic tag was added to gene: MT-TY. Tag mtDNA tag was added to gene: MT-TY. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TY | Zornitza Stark Classified gene: MT-TY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TY | Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.429 | MT-TY |
Zornitza Stark gene: MT-TY was added gene: MT-TY was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL Phenotypes for gene: MT-TY were set to Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy Review for gene: MT-TY was set to GREEN Added comment: Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||