CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.
Articles on Mutation Database
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Insights Into an Ultra Rare Disease
Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.
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Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry…
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A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.
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Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its…
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A Novel Genetic Syndrome
Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed gene-disease associations. As a recent example, bi-allelic loss-of-function variants…