English
Klinische FragestellungHydrolethalus-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hydrolethalus-Syndrom mit 2 bzw. zusammen genommen 11 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP5230
Anzahl Gene
10
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,0 kb (Core-/Core-canditate-Gene)
40,6 kb (Erweitertes Panel: inkl. additional genes)
40,6 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 |
|---|---|---|---|---|
| HYLS1 | 900 | NM_145014.3 | AR | |
| KIAA0586 | 5005 | NM_001244189.2 | AR | |
| KIF7 | 4032 | NM_198525.3 | AR | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| CEP290 | 7440 | NM_025114.4 | AR | |
| CPLANE1 | 9864 | NM_023073.4 | AR | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| GLI3 | 4743 | NM_000168.6 | AD | |
| TCTN3 | 1824 | NM_015631.6 | AR | |
| TMEM216 | 438 | NM_001173990.3 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Schweres fetales Missbildungssyndrom: kraniofaziale dysmorphe Merkmale, zentrales Nervensystem, Herz, Atemwege, Anomalien der Gliedmaßen
Synonyme
- Sy: Polydactyly + central nervous system malformation
- Allelic: Acrocallosal syndrome (KIF7)
- Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
- Allelic: Bardet-Biedl syndrome 13 (MKS1)
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: COACH syndrome (RPGRIP1L)
- Allelic: COACH syndrome 1 (TMEM67)
- Allelic: COACH syndrome 2 (CC2D2A)
- Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
- Allelic: Joubert syndrome 12 (KIF7)
- Allelic: Joubert syndrome 14 (TMEM237)
- Allelic: Joubert syndrome 15 (CEP41)
- Allelic: Joubert syndrome 16 (TMEM138)
- Allelic: Joubert syndrome 17 (C5orf42 syn. CPLANE1)
- Allelic: Joubert syndrome 18 (TCTN3)
- Allelic: Joubert syndrome 2 (TMEM216)
- Allelic: Joubert syndrome 20 (TMEM231)
- Allelic: Joubert syndrome 21 (CSPP1)
- Allelic: Joubert syndrome 23 (KIAA0586)
- Allelic: Joubert syndrome 24 (TCTN2)
- Allelic: Joubert syndrome 27 (B9D1)
- Allelic: Joubert syndrome 28 (MKS1)
- Allelic: Joubert syndrome 29 (TMEM107)
- Allelic: Joubert syndrome 3 (AHI1)
- Allelic: Joubert syndrome 31 (CEP120)
- Allelic: Joubert syndrome 34 (B9D2)
- Allelic: Joubert syndrome 5 (CEP290)
- Allelic: Joubert syndrome 6 (TMEM67)
- Allelic: Joubert syndrome 7 (RPGRIP1L)
- Allelic: Joubert syndrome 9 (CC2D2A)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Orofaciodigital syndrome IV (TCTN3)
- Allelic: Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
- Allelic: Orofaciodigital syndrome XVI (TMEM107)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
- Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
- Hydrolethalus syndrome 2 (KIF7)
- Hydrolethalus syndrome, lethal (HYLS1)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 11 (TMEM231)
- 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 8 (TCTN2)
- Meckel syndrome 9 (B9D1)
- Pallister-Hall syndrome (GLI3)
- Smith-Lemli-Opitz syndrome (DHCR7)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatik und klinische Interpretation
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