ErkrankungSensenbrenner-Syndrom, Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Sensenbrenner-Syndrom mit 4 bzw. zusammengenommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
92,6 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
IFT122 | 3879 | AR | |
IFT140 | 4389 | AR | |
IFT43 | 642 | AR | |
IFT52 | 1327 | AR | |
WDR19 | 4029 | AR | |
WDR35 | 3546 | AR | |
CEP120 | 2961 | AR | |
CEP290 | 7440 | AR und/oder Dig | |
DYNC2H1 | 12945 | AR und/oder Dig | |
DYNC2LI1 | 1438 | AR | |
DYNLT2B | 434 | AR | |
EVC | 2979 | AD und/oder AR | |
EVC2 | 3927 | AD und/oder AR | |
IFT172 | 5250 | AR | |
IFT80 | 2334 | AR | |
IFT81 | 2158 | AR | |
INTU | 2829 | AR | |
IQCB1 | 1797 | AR | |
KIAA0586 | 5005 | AR | |
NEK1 | 3777 | AD und/oder AR und/oder Dig und/oder Sus | |
NPHP1 | 2202 | AR | |
NPHP4 | 4281 | AR | |
SDCCAG8 | 2142 | AR | |
TRAF3IP1 | 1878 | AR | |
TTC21B | 3951 | AD und/oder AR | |
WDR34 | 1620 | AR | |
WDR60 | 3361 |
| AR |
Infos zur Erkrankung
Kongenitale skelettale + ektodermale Defekte in Verbindung mit dysmorphen Merkmalen, Nephronophthise, Leberfibrose, okulären Anomalien (hauptsächlich Retinitis pigmentosa)
DPH1-Mutationen: AR intellektuelle Behinderung, Kleinwuchs, kraniofaziale, ektodermale Anomalien
DD: Jeune asphyxierende Thoraxdystrophie (IFT80-Mutationen), Mainzer-Saldino-Syndrom (IFT140-Mutationen), Ellis-van Creveld-Syndrom (EVC-/EVC2-Mutationen), kurze Rippen-Polydaktylie-Syndrome (SRPS I-V); Senior-Loken-Syndrom (WDR19-Mutationen); EEM-Syndrom, ektodermale Dysplasie, Ektrodaktylie [gespaltene Hand-Spalt-Fuß-Malformation] + progressive Makula-Dystrophie (CDH3-Mutationen)
- Alias: Cranioectodermal dysplasia 1, 2, 3, 4
- Alias: Dysplasie, kranioektodermale 1-4
- Alias: Levin syndrome 1
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 16 (SDCCAG8)
- Allelic: Bardet-Biedl syndrome 20 IFT172)
- Allelic: Joubert syndrome 23 (KIAA0586)
- Allelic: Joubert syndrome 31 (CEP120)
- Allelic: Joubert syndrome 4 (NPHP1)
- Allelic: Joubert syndrome 5 (CEP290)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Meckel syndrome 4 (CEP290)
- Allelic: Nephronophthisis 1, juvenile (NPHP1)
- Allelic: Nephronophthisis 13 (WDR19)
- Allelic: Nephronophthisis 4 (NPHP4)
- Allelic: Orofaciodigital syndrome XVII (INTU)
- Allelic: Retinitis pigmentosa 71 (IFT172)
- Allelic: Retinitis pigmentosa 80 (IFT140)
- Allelic: Retinitis pigmentosa 81 (IFT43)
- Allelic: Senior-Loken syndrome 8 (WDR19)
- Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
- Allelic: Short-rib thoracic dysplasia 11 with/-out polydactyly (WDR34)
- Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEO120)
- Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
- Allelic: Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
- Allelic: Short-rib thoracic dysplasia 16 with/-out polydactyly (ITF52)
- Allelic: Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
- Allelic: Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
- Allelic: Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
- Allelic: Short-rib thoracic dysplasia 20 with polydactyly )INTU)
- Allelic: Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
- Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
- Allelic: Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
- Allelic: Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
- Allelic: Short-rib thoracic dysplasia 8 with/-out polydactyly (WDR8)
- Allelic: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
- Cranioectodermal dysplasia 1 (IFT122)
- Cranioectodermal dysplasia 2 (WDR35)
- Cranioectodermal dysplasia 3 (IFT43)
- Cranioectodermal dysplasia 4 (WDR19)
- Cranioectodermal dysplasia [genereviews] (IFT140)
- Cranioectodermal dysplasia [genereviews] (IFT52)
- Ellis-van Creveld syndrome (EVC, EVC2)
- Joubert syndrome [panelapp] (KIAA0753)
- Orofaciodigital syndrome XV (KIAA0753)
- Orofaciodigital syndrome XVII (INTU)
- Senior-Loken syndrome 1 (NPHP1)
- Senior-Loken syndrome 4 (NPHP4)
- Senior-Loken syndrome 5 (IQBC1)
- Senior-Loken syndrome 6 (CEP290)
- Senior-Loken syndrome 7 (SDCCAG8)
- Senior-Loken syndrome 9 (TRAF3IP1)
- Short-rib thoracic dysplasia 17 with/-out polydactyly (TXTEX1D2)
- Short-rib thoracic dysplasia 19 with or without polydactyly (IFT81)
- Short-rib thoracic dysplasia 20 with polydactyly (INTU)
- Short-rib thoracic dysplasia 21 without polydactyly (KIAA0753)
- Weyers acrofacial dysostosis (EVC, EVC2)
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AR
- AR und/oder Dig
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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