ErkrankungRitscher-Schinzel-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Ritscher-Schinzel-Syndrom mit 2 bzw. zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
RP5559
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,4 kb (Core-/Basis-Gene)
101,9 kb (Erweitertes Panel)
101,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CCDC22 | 1884 | XLR | |
WASHC5 | 3480 | AD und/oder AR | |
AHI1 | 3591 | AR | |
ALX1 | 981 | AR | |
ALX3 | 1032 | AR | |
ALX4 | 1236 | AD und/oder AR | |
CC2D2A | 4863 | AR | |
CEP290 | 7440 | AR und/oder Dig | |
CHD7 | 8994 | AD und/oder Impr | |
CSPP1 | 3666 | AR | |
DPH1 | 1332 | AR | |
EVC | 2979 | AD und/oder AR | |
EVC2 | 3927 | AD und/oder AR | |
HDAC8 | 1134 | XLD | |
KDM6A | 4206 | XLD und/oder Impr | |
KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
MKS1 | 1680 | AR | |
NIPBL | 8415 | AD und/oder Impr | |
NPHP1 | 2202 | AR | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
RPGRIP1L | 3948 | AR | |
SMC1A | 3702 | XLD und/oder Impr | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
TCTN2 | 2094 | AR | |
TMEM216 | 438 | AR | |
TMEM67 | 2988 | AR | |
VPS35L | 3462 | AR |
Infos zur Erkrankung
Synonyme
- Alias: 3C-Syndrom
- Alias: Dysplasie, kardiale kraniozerebelläre
- Allelic: Craniosynostosis 5, susceptibility to (ALX4)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Parietal foramina 2 (ALX4)
- Allelic: Spastic paraplegia 8, AD (WASHC5)
- Bardet-Biedl syndrome 13 (MKS1)
- Bardet-Biedl syndrome 14 (CEP290)
- Bardet-Biedl syndrome 14, modifier of (TMEM67)
- CHARGE syndrome (CHD7)
- COACH syndrome 1 (TMEM67)
- COACH syndrome 2 (CC2D2A)
- COACH syndrome 3 (RPGRIP1L)
- Cornelia de Lange syndrome 1 (NNIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Cornelia de Lange syndrome 5 (HDAC8)
- Developmental and epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
- Ellis-van Creveld syndrome (EVC)
- Ellis-van Creveld syndrome (EVC2)
- Frontonasal dysplasia 2 (ALX4)
- Frontonasal dysplasia 3 (ALX1)
- Joubert syndrome 1 (INPP5E)
- Joubert syndrome 17 (CPLANE1)
- Joubert syndrome 2 (TMEM216)
- Joubert syndrome 21 (CSPP1)
- Joubert syndrome 23 (KIAA0586)
- Joubert syndrome 24 (TCTN2)
- Joubert syndrome 28 (MKS1)
- Joubert syndrome 3 (AHI)
- Joubert syndrome 4 (NPHP1)
- Joubert syndrome 5 (CEP290)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Loucks-Innes syndrome (DPH1)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 2 (TMEM216)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 4 (CEP290)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 8 (TCTN2)
- Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
- Mungan syndrome (RAD21)
- Nephronophthisis 1, juvenile (NPHP1)
- Orofaciodigital syndrome VI (CPLANE1)
- RHYNS syndrome (TMEM67)
- Ritscher-Schinzel syndrome 1 (WASHC5)
- Ritscher-Schinzel syndrome 2 (CCDC22)
- Ritscher-Schinzel syndrome 3 (VPS35L syn. C16orf62)
- Senior-Loken syndrome 6 (CEP290)
- Senior-Loken syndrome-1 (NPHP1)
- Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
- Weyers acrofacial dysostosis (EVC)
- Weyers acrofacial dysostosis (EVC2)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Impr
- AD und/oder Impr
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus und/oder Impr
- AR
- AR und/oder Dig
- XLD
- XLD und/oder Impr
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatik und klinische Interpretation
Kein Text hinterlegt