ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: GLYCINE ENCEPHALOPATHY; GCE
Evidence for haploinsufficiency phenotype
PubMed ID Description
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.

Haploinsufficiency phenotype comments:

Many reports of pathogenic variants in GLDC associated with nonketotic hyperglycinemia (aka glycine encephalopathy) and autosomal recessive inheritance.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Some whole gene duplications are present in the Database of Genomic Variants.