ClinGen Dosage Sensitivity Curation Page

DLK1-MEG3 Intergenic DMR

  • Curation Status: Complete
  • id: ISCA-37447
  • Date last evaluated: 2012-05-10
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 1
  • ClinGen Triplosensitivity Score: 0

Location Information

  • 14q32.2
  • GRCh37/hg19 chr14: 101,191,391-101,294,616
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr14: 100,725,054-100,828,279
  • View: NCBI | Ensembl | UCSC
Select assembly: () ()
Evidence for haploinsufficiency phenotype
PubMed ID Description
20585555 Kagami (2010): This report includes a patient with a paternal UPD(14) phenotype who had a maternally-inherited 8.5 kb focal deletion of the intergenic differentially methylated region (IG-DMR) between the DLK1 and MEG3 genes. The mother had features suggestive of maternal UPD(14) though grandparental testing was not done.

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 this region and other genes within this imprinted region (PMIDs: 18176563, 20179077, 18454453).

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