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| Likely inborn error of metabolism - targeted testing not possible v4.112 | KCTD7 |
Sarah Leigh gene: KCTD7 was added gene: KCTD7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721 Review for gene: KCTD7 was set to RED Added comment: Although this gene is rated as Green on the Neuronal ceroid lipofuscinosis panel, it is not considered to be a metabolic gene and so is rated Red on this panel. Sources: Other |
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