Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrMT:14692
- GRCh38:
- ChrMT:14692
| MT-TE | | Mitochondrial disease | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:14709
- GRCh38:
- ChrMT:14709
| MT-TE | | Mitochondrial disease | Likely pathogenic
(Jan 23, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:3243
- GRCh38:
- ChrMT:3243
| MT-TL1 | | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, Stroke, Sensorineural hearing impairment,
Glucose intolerance, Short stature, not provided,
not specified, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke,
Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeDiabetes-deafness syndrome maternally transmitted,
See cases, Cerebral palsy, ...see more | Pathogenic/Likely pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:8296
- GRCh38:
- ChrMT:8296
| MT-TK | | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Benign
(Jul 12, 2019) | criteria provided, single submitter |