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Curating the Clinical Genome 2024 ePoster Gallery
An Ongoing Collaboration the Association for Creat ...
An Ongoing Collaboration the Association for Creatine Deficiencies and the Clinical Genome Resource Work Together to Facilitate Variant Classification
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The document discusses the collaboration between the ClinGen CCDS VCEP, ACD, and GenomeConnect to gather data on variants in genes associated with Cerebral Creatine Deficiency Syndromes (CCDS) for classification. By partnering with patient registries, new data from 6 probands has led to the reclassification of 3 out of 6 variants. The aim is to continue collecting case-level data to reclassify more variants in genes like GATM, GAMT, and SLC6A8. The effort seeks to provide accurate variant classifications for timely diagnosis and family testing. Additionally, the document mentions the availability of data from patients with CCDS from sources like CreatineINFO and ClinVar. The study also highlights the critical need for accurate variant classification for effective treatment and diagnostic purposes. The partnership with organizations like ACD and GenomeConnect, along with the collaboration with various medical institutions, demonstrates a concerted effort to improve the understanding and classification of variants associated with CCDS.
Keywords
ClinGen CCDS VCEP
ACD
GenomeConnect
Cerebral Creatine Deficiency Syndromes
variants
genes
GATM
GAMT
SLC6A8
variant classification
Jennifer Goldstein (jennifer.goldstein@unc.edu)
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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