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| Likely inborn error of metabolism - targeted testing not possible v4.108 | CLCN6 | Sarah Leigh edited their review of gene: CLCN6: Added comment: PMID 33217309 reports gain of function associated with CLCN6 variants.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.108 | CLCN6 | Sarah Leigh commented on gene: CLCN6: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.108 | CLCN6 |
Sarah Leigh gene: CLCN6 was added gene: CLCN6 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870 Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Review for gene: CLCN6 was set to RED Added comment: Sources: Other |
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