Klinische FragestellungImprinting-Störungen, Multi-Locus

NGS +

• Alias: Multilocus imprinting disturbance, MLID
• ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Affected tissue: myeloid lineages [panelapp] (L3MBTL)
• Angelman syndrome (UBE3A)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Beckwith-Wiedemann syndrome (KCNQ1OT1)
• Beckwith-Wiedemann syndrome (KCNQ1OT1, KCNQ1-overlapping transcript)
• Beckwith-Wiedemann syndrome [panelapp] (H19)
• Beckwith-Wiedemann syndrome, MLID (NLRP2)
• Biparental complete hydatidiform mole, Beckwith-Wiedemann syndrome, MLID (NLRP5)
• Birk-Barel syndrome, mental retardation, hypotonia + characteristic dysmorphism (KCNK9)
• Developmental delay, dysmorphic features [panelapp] (PEG3)
• Diabetes mellitus, transient neonatal 1 (ZFP57)
• Diabetes mellitus, transient neonatal 1 [panelapp] (PLAGL1)
• Dystonia-11, myoclonic (SGCE)
• Hydatidiform mole, recurrent, 1 (NLRP7)
• Hydatidiform mole, recurrent, 2 (KHDC3L)
• IMAGe syndrome (CDKN1C)
• Kagami-Ogata syndrome [panelapp] (MEG3)
• McCune-Albright syndrome, somatic, mosaic (GNAS)
• Osseous heteroplasia, progressive (GNAS)
• Phenotype resulting from under expression: lymphoid malignancy [panelapp] (L3MBTL)
• Prader-Willi syndrome [panelapp] (SNRPN)
• Precocious puberty, central, 2 (MKRN3)
• Preimplantation embryonic lethality 2 (PADI6)
• Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Schaaf-Yang syndrome (MAGEL2)
• Silver-Russell syndrome 2 [panelapp] (GRB10, MEST)
• Silver-Russell syndrome 3 (IGF2)
• Silver-Russell syndrome [panelapp] (H19)
• Temple syndrome [panelapp] (MEG3)
• Wilms tumor 2 [panelapp] (H19)
• [Reduced expression gene, REX1] (ZFP42)