Table 2.
Imprinted DMRs which should be addressed in (future) multi-locus assays
| Imprinted DMR | Chromosome | Imprinting disorder in which the DMR is primarily alteredc | Physical position (GRCh38/hg38) | Addressed by MS-MLPA assay |
|---|---|---|---|---|
| PLAGL1:alt-TSS-DMR | 6q24.2 | TNDM upd(6)mat | chr6:g.144006941 -144,008,751 | ME032, ME033, ME034 |
| GRB10:alt-TSS-DMR | 7p12.1 | SRSd | chr7:g.50781029 -50,783,615 | ME032, ME034 |
| MEST:alt-TSS-DMR | 7q32.2 | SRSd | chr7:g.130490281 -130,494,547 | ME032, ME034 |
| H19/IGF2:IG-DMR | 11p15.5 | SRS, BWS | chr11:g.1997582 -2,003,510 | ME030, ME034 |
| KCNQ1OT1:TSS-DMR | BWS | chr11:g.2698718 -2,701,029 | ME030, ME034 | |
| MEG3:TSS-DMRb | 14q32.2 | TS14, KOS14 | chr14:g.100824187 -100,827,641 | ME032, ME034 |
| MEG3/DLK1:IG-DMRa | chr14:100,811,001–100,811,037 | None | ||
| MAGEL2:TSS-DMRb | 15q11.2 | PWS, AS | chr15:g.23647278 -23,648,882 | ME028 |
| SNURF:TSS-DMR | chr15:g.24954857 -24,956,829 | ME028, ME034 | ||
| ZNF597:TSS-DMR | 16p13.3 | upd(16)mat | chr16:g.3442828 -3,444,463 | None |
| PEG3:TSS-DMR | 19q13.43 | chr19:g.56837125 -56,841,903 | ME034 | |
| GNAS-NESP:TSS-DMR | 20q13.32 | PHP upd(20)mat | chr20:g.58838984 -58,843,557 | ME031, ME034 |
| GNAS-AS1:TSS-DMR | chr20:g.58850594 -58,852,978 | ME031, ME034 | ||
| GNAS-XL:Ex1-DMR | chr20:g.58853850 -58,856,408 | ME031, ME034 | ||
| GNAS A/B:TSS-DMR | chr20:g.58888210–58,890,146 | ME031, ME034 |
With the exception of PEG3:TSS-DMR, all are associated with clinical pictures. The physical positions are based on [47] with the exception of MEG3/DLK1:IG-DMR (a) which has been determined by [48]. (bThese DMRs represent secondary DMRs. cIn case an imprinting disorder locus comprises several DMRs, the DMRs might be differentially affected by the molecular subtypes. Just internationally accepted imprinting disorders are listed. dThese DMRs are affected by (segmental) upd(7)mat or CNVs, but isolated IDs have not yet been described.)