From: First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
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 | Â | 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 | Â | Â | 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 | Â | 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 | Â | Â | chr20:g.58850594 -58,852,978 | ME031, ME034 |
GNAS-XL:Ex1-DMR | Â | Â | chr20:g.58853850 -58,856,408 | ME031, ME034 |
GNAS A/B:TSS-DMR |  |  | chr20:g.58888210–58,890,146 | ME031, ME034 |