DLK1-MEG3 Intergenic Region

Region Facts

Region Name
DLK1-MEG3 Intergenic Region
Cytoband
14q32.2
Genomic Coordinates
GRCh37/hg19 chr14:101190852-101299552 NCBI Ensembl UCSC
GRCh38/hg38 chr14:100724515-100833215 NCBI Ensembl UCSC

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
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

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