ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • 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