Table 1 The by now known imprinting disorders are detailed acc. to the literature [8,9,10]

Transient neonatal diabetes mellitus (TNDM) (familial)

PLAGL:alt-TSS-DMR, LOM*

ZFP57⁺

6q24

–

pat

6q pat

–

+

+

Birk-Barel intellectual disability syndrome (BBIDS)

KCNK9⁺

8q24

–

–

–

–

–

+

Silver-Russell syndrome (SRS)

GRB10:alt-TSS-DMR, GOM*

7

–

mat

7p and/or 7q mat

–

+

–

HG19/IGF2:TSS-DMR, LOM*

KCNQ10T1:TSS-DMR, GOM*

CDKN1C⁺

IGF2⁺

HMGA2⁺

PLAG1⁺

11p15.5

+

mat

11p mat

–

+

+

Beckwith-Wiedemann syndrome (BWS)

GRB10:alt-TSS-DMR, GOM*

HG19/IGF2:TSS-DMR, GOM*

KCNQ10T1:TSS-DMR, LOM*

CDKN1C⁺ mat

11p15.5

+

pat

11p pat

–

+

+

No syndrome yet but imprinting has been proven

RB1

13q14.2

–

mat

–

–

–

–

Temple syndrome (TS14)

MEG3/DLK1:TSS-DMR, LOM*

14q32

–

Mat

–

14q pat

–

+

Kagami-Ogata syndrome (KOS14)

MEG3/DLK1:TSS-DMR, GOM*

14q32

+

pat

–

14q

mat

–

+

(familial) Central Precocious Puberty (CPPB)

DLK1⁺ mat

14q32

–

–

+

+

–

+

Prader-Willi syndrome (PWS)

SNURF:TSS-DMR, GOM*

15q11q13

+

mat

–

15q

pat

–

+

Angelman syndrome (AS)

SNURF:TSS-DMR, LOM*

UBE3A⁺ mat

15q11q13

+

pat

–

15q

mat

+

+

Central Precocious Puberty 2 (CPPB2)

MKRN3⁺ pat

15q11.2

–

–

–

–

–

+

Schaaf-Yang syndrome (SHFYNG)

MAGEL2⁺ pat

15q11.2

–

–

–

–

–

+

Pseudo-hypoparathyoridism type 1B (PHP1B)

GNAS-NESP:TSS-DMR, GOM*

GNAS-AS1:TSS-DMR, LOM*

GNAS-XL:Ex1-DMR, GOM*

GNAS⁺

20q13

+

pat

–

20q

mat

+

+

Mulchandani-Bhoi-Conlin syndrome (MBCS)

n.a

6q24

–

mat

–

–

–

–

Multilocus imprinting disturbance (MLID)

They can show mixture of all above mentioned imprinting disorders or main features of only one of them