A group of experts made special rules to better understand genetic changes linked to rare brain-related creatine disorders, using extra medical and lab clues to make more accurate diagnoses.

Evidence from Studies

Supporting (1)

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Computational/Algorithm Study

2024 May

Contradicting (0)

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No contradicting evidence found

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Source Study

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

DOI: 10.1016/j.ymgme.2024.108362

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