In people with certain brain-related creatine disorders, the most common DNA changes found in three key genes are a type called 'missense' — meaning a small typo that changes one building block of a...

Evidence from Studies

Supporting (1)

Community contributions welcome

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

Gold Standard Evidence Needed

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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

Similar Assertions

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.

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