English
Klinische FragestellungMeckel-[Gruber-]Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Meckel[-Gruber]-Syndrom mit 10 "core candidate"-Genen bzw. zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP5160
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,8 kb (Core-/Core-canditate-Gene)
47,6 kb (Erweitertes Panel: inkl. additional genes)
47,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| B9D1 | 615 | NM_015681.5 | AR | |
| B9D2 | 528 | NM_030578.4 | AR | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| CEP290 | 7440 | NM_025114.4 | AR | |
| MKS1 | 1680 | NM_017777.4 | AR | |
| RPGRIP1L | 3948 | NM_015272.5 | AR | |
| TCTN2 | 2094 | NM_024809.5 | AR | |
| TMEM216 | 438 | NM_001173990.3 | AR | |
| TMEM231 | 1110 | NM_001077416.2 | AR | |
| TMEM67 | 2988 | NM_153704.6 | AR | |
| CEP120 | 2961 | NM_153223.4 | AR | |
| CEP41 | 1122 | NM_018718.3 | AR | |
| CSPP1 | 3666 | NM_024790.6 | AR | |
| KIF14 | 4947 | NM_014875.3 | AR | |
| NPHP3 | 3993 | NM_153240.5 | AR | |
| TCTN3 | 1824 | NM_015631.6 | AR | |
| TMEM107 | 514 | NM_032354.5 | AR | |
| TMEM138 | 489 | NM_016464.5 | AR | |
| TMEM237 | 1227 | NM_001044385.3 | AR | |
| TXNDC15 | 1088 | NM_024715.4 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Letale, multiple kongenitale Anomalie mit einer Triade von Hirnfehlbildungen (hauptsächlich okzipitale Enzephalozele), großen polyzystischen Nieren + Polydaktylie, assoziierten Anomalien wie Lippen-/Gaumenspalte, Herz- + Genitalanomalien, Fehlbildungen des Zentralnervensystems, Leberfibrose, Knochendysplasie
Synonyme
- Alias: Dysencephalia splanchnocystica
- Allelic: Bardet-Biedl syndrome 13 (MKS1)
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: Bardet-Biedl syndrome 15 (WDPCP)
- Allelic: COACH syndrome (CC2D2A, RPGRIP1L, TMEM67)
- Allelic: Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Microcephaly 20, primary, AR (KIF14)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Nephronophthisis 3 (NPHP3)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
- Joubert syndrome 14 (TMEM237)
- Joubert syndrome 15 (CEP41)
- Joubert syndrome 16 (TMEM138)
- Joubert syndrome 17 (CPLANE1)
- Joubert syndrome 18 (TCTN3)
- Joubert syndrome 2 (TMEM216)
- Joubert syndrome 20 (TMEM231)
- Joubert syndrome 21 (CSPP1)
- Joubert syndrome 24 (TCTN2)
- Joubert syndrome 28 (MKS1)
- Joubert syndrome 29 (TMEM107)
- Joubert syndrome 31 (CEP120)
- Joubert syndrome 34 (B9D2)
- Joubert syndrome 5 (CEP290)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 11 (TMEM231)
- Meckel syndrome 12 (KIF14)
- Meckel syndrome 13 (TMEM107)
- Meckel syndrome 2 (TMEM216)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 4 (CEP290)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 7 (NPHP3)
- Meckel syndrome 8 (TCTN2)
- Meckel syndrome 9 (B9D1)
- Meckel[-Gruber] syndrome [panelapp] (TXNDC15)
- Meckel[-Gruber] syndrome [panelapp] (WDPCP)
- Orofaciodigital syndrome IV (TCTN3)
- Orofaciodigital syndrome VI (CPLANE1)
- Orofaciodigital syndrome XVI (TMEM107)
Erbgänge, Vererbungsmuster etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.8
Bioinformatik und klinische Interpretation
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