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

Molecular genetics and metabolism - 1 May 2024

Goldstein Jennifer, Thomas-Wilson Amanda, Groopman Emily, Aggarwal Vimla, Bianconi Simona, Fernandez Raquel, Hart Kim, Longo Nicola, Liang Nicole, Reich Daniel, Wallis Heidi, Weaver Meredith, Young Sarah, Mercimek-Andrews Saadet

Abstract excerpt

Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded by GATM, which are involved in the synthesis of creatine. After synthesis, creatine is taken up by a sodium-dependent membrane bound creatine...

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Identifiers

PMID: 38452609
DOI: 10.1016/j.ymgme.2024.108362
PMCID: PMC11874059

Genes

GAMT
GATM
SLC6A8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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