ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 14q32.2
  • GRCh37/hg19 chr14: 101,292,445-101,327,363
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr14: 100,826,108-100,861,026
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000014.8) (NC_000014.9)
Evidence for haploinsufficiency phenotype
PubMed ID Description
20585555 Kagami (2010): This report includes a patient with a paternal UPD(14) body phenotype but no abnormal placental phenotype who had a de novo 4.3 kb deletion that includes the 5' end of MEG3 and 5 of 7 putative CTCF binding sites, as well as the adjacent MEG3-DMR. An insertion of sequence duplicated from MEG3 intron 5 accompanied the deletion. The deletion was of maternal origin.

Haploinsufficiency phenotype comments:

There have been a number of families and sporadic cases with upd(14)pat or upd(14)mat-like phenotypes and larger deletions that include MEG3 and other genes within this imprinted region (PMIDs: 18176563, 20179077, 18454453).

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