PubMed ID | Description |
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22171071 | This paper describes variants in glycine cleavage system genes (e.g. GLDC) in patients with neural tube defects (NTD). Multiple rare missense variants in GLDC and one cannonical acceptor site variant in GLDC were observed in the heterozygous state in their NTD cohort and the authors conclude that mutations in GLDC and AMT predispose to NTDs in mice and humans. |
Many reports of pathogenic variants in GLDC associated with nonketotic hyperglycinemia (aka glycine encephalopathy) and autosomal recessive inheritance.
Some whole gene duplications are present in the Database of Genomic Variants.