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Table 2 Imprinted DMRs which should be addressed in (future) multi-locus assays

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

 

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

  1. 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.)