DLK1-MEG3 Intergenic Region |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37447
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Region
Description:
DLK1-MEG3 Intergenic Region. It includes the paternally expressed DLK1 gene, the 2 differentially methylated regions (DMRs) DLK1/MEG3:IG-DMR and MEG3:TSS-DMR, and the 5' end of the maternally expressed gene MEG3 (4 exons). Coordinates are based on the 108 kb deletion described by Sabria-Back et al (PMID 33579810), smallest region reported to be associated with both KOS or TS depending on the parental origin.
Breakpoint Type:
Variable
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Related Links:
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.