ClinGen Dosage Sensitivity Curation Page

SYNGAP1

  • Curation Status: Complete

Location Information

  • 6p21.32
  • GRCh37/hg19 chr6: 33,387,847-33,421,466
  • View: NCBI | Ensembl | UCSC

GRCh37/hg19 chr6: 33,387,847-33,421,466 (NC_000006.11)

Evidence for haploinsufficiency phenotype
PubMed ID Description
19196676 The authors sequenced SYNGAP1 in 94 patients with nonsyndromic intellectual disability (NSID). They identified de novo K138X, R579X, and 2438delT (results in frameshift and premature truncation) mutations in 3 patients, but not in 190 controls.
21237447 The authors sequenced SYNGAP1 in 60 patients with nonsyndromic intellectual disability (NSID). They identified de novo frameshift deletions (Q893RfsX184 and K108VfsX25) in 2 patients, but not in 380 controls.
20683986 Large (~800 kb) de novo deletion of SYNGAP1 and ~17 other genes in a patient with ID.
  • Haploinsufficiency phenotype comments: nonsyndromic mental retardation-5 (MRD5; 612621)
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence available