Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrMT:15485
- GRCh38:
- ChrMT:15485
| MT-CYB | | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Kearns-Sayre syndrome, MERRF syndrome,
Leigh syndrome, Progressive external ophthalmoplegia, Leber optic atrophy,
NARP syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr10:102749088
- GRCh38:
- Chr10:100989331
| TWNK | R374Q | Bilateral ptosis, Dysphonia, Depression,
Neuromuscular dysphagia, Progressive external ophthalmoplegia, Bilateral sensorineural hearing impairment,
EMG: myopathic abnormalities, Abnormal mitochondria in muscle tissue, not provided
| Pathogenic/Likely pathogenic
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:7486
- GRCh38:
- ChrMT:7486
| MT-TS1 | | Progressive external ophthalmoplegia | Uncertain significance
(Dec 22, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:103244484
- GRCh38:
- Chr8:102232256
| RRM2B | P105S | not provided, Mitochondrial DNA depletion syndrome 8a | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:103225090
- GRCh38:
- Chr8:102212862
| RRM2B | G345S, G221S | not provided | Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:103231120
- GRCh38:
- Chr8:102218892
| RRM2B | F274L, F150L | Progressive external ophthalmoplegia | Uncertain significance
(Jun 7, 2011) | no assertion criteria provided |