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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessImprinting disturbances, multilocus; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for multilocal imprinting defects containing 24 curated genes according to the clinical signs

ID
IP6675
Number of genes
8 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
16,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GNAS1185NM_000516.7AD
KHDC3L654NM_001017361.3AR
NLRP23189NM_017852.5AD, AR
NLRP53603NM_153447.4AD, AR
NLRP73114NM_001127255.1AD, AR
PADI62086NM_207421.4AD, AR
ZFP42934NM_174900.5Impr
ZFP571611NM_001109809.5AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined