Activity
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5 actions
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| Likely inborn error of metabolism v4.52 | MT-ND4L | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.49 | MT-ND4L | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.250 | MT-ND4L | Catherine Snow Tag gene-checked tag was added to gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MT-ND4L | Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY for gene: MT-ND4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MT-ND4L |
Ellen McDonagh gene: MT-ND4L was added gene: MT-ND4L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4L were set to LEBER OPTIC ATROPHY |
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