| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v0.1069 | MT-TS2 | Zornitza Stark Phenotypes for gene: MT-TS2 were changed from MERRF; MELAS; Cerebellar ataxia to Mitochondrial disease (MONDO:0044970), MT-TS2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1068 | MT-TS2 | Zornitza Stark Publications for gene: MT-TS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1067 | MT-TS2 |
Zornitza Stark edited their review of gene: MT-TS2: Added comment: MODERATE by ClinGen. At least 7 individuals reported. Affected individuals had varying clinical features including cataracts, retinal dystrophy, hearing loss, myopathy, ataxia, seizures, global developmental delay, diabetes, Wolff-Parkinson-White arrhythmia, hypertrophic cardiomyopathy, and hypogonadotropic hypogonadism. Lab investigations revealed elevated blood lactate and elevated creatine kinase. Muscle biopsy, when performed, generally showed reduced activities of complexes I, I+III, III, and/or IV. Brain imaging was normal in some cases. In one individual brain imaging revealed changes in the basal ganglia and diffuse atrophy with an enlarged cisterna magna and in another showed changes in the cerebral white matter. Heteroplasmy levels were variable – some individuals had the highest levels in muscle with the variant being undetectable in other tissues while others had the variant present at homoplasmy in multiple tissues. Northern blotting and single fiber testing further supported variant pathogenicity.; Changed publications: 9792552, 10090882, 16950817, 21257182, 22369973, 22378285; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS2-related |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-TS2 | Zornitza Stark Tag mtDNA tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.423 | MT-TS2 | Zornitza Stark Marked gene: MT-TS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.423 | MT-TS2 | Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.423 | MT-TS2 | Zornitza Stark Classified gene: MT-TS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.423 | MT-TS2 | Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.422 | MT-TS2 |
Zornitza Stark gene: MT-TS2 was added gene: MT-TS2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL Phenotypes for gene: MT-TS2 were set to MERRF; MELAS; Cerebellar ataxia Review for gene: MT-TS2 was set to GREEN Added comment: Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||