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

Goldstein, J., Thomas-Wilson, A., Groopman, E., Aggarwal, V., Bianconi, S., Fernandez, R., Hart, K., Longo, N., Liang, N., Reich, D., Wallis, H., Weaver, M., Young, S., & Mercimek-Andrews, S. (2024). ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Molecular Genetics and Metabolism, 142(1), 108362. https://doi.org/10.1016/j.ymgme.2024.108362
Authors:
Jennifer Goldstein
Amanda Thomas-Wilson
Emily Groopman
Vimla Aggarwal
Simona Bianconi
Raquel Fernandez
Kim Hart
Nicola Longo
Nicole Liang
Daniel Reich
Heidi Wallis
Meredith Weaver
Sarah Young
Saadet Mercimek-Andrews
Affiliated Authors:
Vimla Aggarwal
Columbia Affiliation:
Subjects:
Guanidinoacetate N-Methyltransferase (MeSH)
Creatine (MeSH)
Plasma Membrane Neurotransmitter Transport Proteins (MeSH)
Amidinotransferases (MeSH)
Language Development Disorders (MeSH)
Movement Disorders (MeSH)
Intellectual Disability (MeSH)
Amino Acid Metabolism, Inborn Errors (MeSH)
Nerve Tissue Proteins (MeSH)
Speech Disorders (MeSH)
Author Keywords:
cerebral creatine deficiency syndromes
creatine
guanidinoacetate
brain magnetic resonance spectroscopy
gamt
gatm
acmg/amp
slc6a8
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Publication Type:
Article
Unique ID:
10.1016/j.ymgme.2024.108362
PMID:
38452609
DOI:
10.1016/j.ymgme.2024.108362
Journal:
Molecular Genetics and Metabolism
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: