Table 3.

Subtypes of imprinted DMRs¹

Name	Description	Loci
Clinically associated DMR2	DMR where (epi)genetic changes altering expression are directly associated with a canonical imprinting disorder, or are used as a proxy to detect imprinting disturbance or stratify diagnosis2	PLAGL1:alt-TSS-DMR; H19/IGF2:IG-DMR2; KCNQ1OT1:TSS-DMR; MEG3/DLK1:IG-DMR2; SNURF:TSS-DMR; GNAS-A/B:TSS-DMR; GRB10:alt-TSS-DMR; MEST:alt-TSS-DMR; PEG3:TSS-DMR; GNAS-AS1:TSS-DMR; GNAS-NESP:TSS-DMR; GNAS-XL:Ex1-DMR
Non-clinical DMR	DMR whose imprinting is not currently associated with a clinical phenotype or used in diagnosis	PPIEL:Ex1-DMR; DIRAS3:Ex2-DMR; DIRAS3:TSS-DMR; ZDBF2/GPR1:IG-DMR; NAP1L5:TSS-DMR; FAM50B:TSS-DMR; IGF2R:Int2-DMR; PEG10:TSS-DMR; SVOPL:alt-TSS-DMR; HTR5A:TSS-DMR; ERLIN2:Int6-DMR; PEG13:TSS-DMR; FANCC:Int1-DMR; [H19/IGF2TSS-DMR]; IGF2:alt-TSS-DMR; MEG3:TSS-DMR; MEG8 Int2 DMR; RB1:Int2-DMR; MAGEL2:TSS-DMR; NDN:TSS-DMR; SNRPN alt-TSS DMR; IGF1R:Int2-DMR; ZNF597:TSS-DMR; ZNF597:3-DMR4; ZNF331:alt-TSS-DMR1; ZNF331:alt-TSS-DMR2; MCTS2P:TSS-DMR; NNAT:TSS-DMR; L3MBTL1:alt-TSS-DMR; WRB:alt-TSS-DMR; SNU13:alt-TSS-DMR

These imprinted DMR subtypes relate to DNA from blood, which is the most frequently used diagnostic tissue. Non-blood tissues may have different methylation profiles, which should be determined using control cohorts before inclusion in diagnostic protocols. Tissue-specific (e.g. placental), transient, and polymorphically imprinted loci are excluded from this table. Categories are based on current understanding and may change as knowledge changes. 2, Currently available MLPA assays (March 2024) use secondary DMR as proxy [72]