Activity
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6 actions
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| Likely inborn error of metabolism v4.52 | MT-CO3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.49 | MT-CO3 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.252 | MT-CO3 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.318 | MT-CO3 | Louise Daugherty Phenotypes for gene: MT-CO3 were changed from to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.317 | MT-CO3 | Louise Daugherty Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MT-CO3 |
Ellen McDonagh gene: MT-CO3 was added gene: MT-CO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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