Deutsch
IllnessImprinting disturbances, multilocus; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for multilocal imprinting defects containing 24 curated genes according to the clinical signs
ID
IP6675
Number of loci
| Locus type | Count |
|---|---|
| Gen | 10 |
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
22,2 kb (Extended panel: incl. additional genes)
22,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| GNAS | 1185 | NM_000516.7 | AD | |
| KCNQ1 | 2031 | NM_000218.3 | AD | |
| KHDC3L | 654 | NM_001017361.3 | AR | |
| MAGEL2 | 3750 | NM_019066.5 | AD | |
| NLRP2 | 3189 | NM_017852.5 | AD, AR | |
| NLRP5 | 3603 | NM_153447.4 | AD, AR | |
| NLRP7 | 3114 | NM_001127255.2 | AD, AR | |
| PADI6 | 2086 | NM_207421.4 | AD, AR | |
| ZFP42 | 934 | NM_174900.5 | Impr | |
| ZFP57 | 1611 | NM_001109809.5 | AR |
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