ClinGen Dosage Sensitivity Curation Page

DLK1

  • Curation Status: Complete

Location Information

  • 14q32.2
  • GRCh37/hg19 chr14: 101,193,202-101,204,561
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr14: 100,726,865-100,738,224
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000014.8) (NC_000014.9)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There are no reports in the literature of focal deletions or loss of function mutations involving DLK1. 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 DLK1 and other genes within this imprinted region (PMIDs: 18176563, 20179077, 18454453). The possibility of loss of paternal expression of DLK1 as the mechanism for the upd(14)mat phenotype has been discussed (PMID: 18698157) but has not been proven.

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