English
Klinische FragestellungMalformationen der Gallenwege, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Malformationen der Gallenwege mit 13 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP5656
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 18 |
Untersuchte Sequenzlänge
55,0 kb (Core-/Core-canditate-Gene)
64,3 kb (Erweitertes Panel: inkl. additional genes)
64,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ALG8 | 1404 | NM_024079.5 | AD | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| DGUOK | 834 | NM_080916.3 | AR | |
| DNAJB11 | 1250 | NM_016306.6 | AD | |
| GANAB | 2900 | NM_198335.4 | AD | |
| LRP5 | 4848 | NM_002335.4 | AD | |
| PKD1 | 12912 | NM_001009944.3 | AD | |
| PKD2 | 2907 | NM_000297.4 | AD | |
| PKHD1 | 12225 | NM_138694.4 | AR | |
| PRKCSH | 1587 | NM_002743.3 | AD | |
| RPGRIP1L | 3948 | NM_015272.5 | AR | |
| SEC63 | 2283 | NM_007214.5 | AD | |
| TMEM67 | 2988 | NM_153704.6 | AR | |
| B9D1 | 615 | NM_015681.5 | AR | |
| RTEL1 | 3732 | NM_032957.5 | AD, AR | |
| SEC61B | 295 | NM_006808.3 | AD | |
| STN1 | 1221 | NM_024928.5 | AR | |
| TERT | 3399 | NM_198253.3 | AD, AR |
Infos zur Erkrankung
Synonyme
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: Bone mineral density variability 1 (LRP5)
- Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
- Allelic: Exudative vitreoretinopathy 4 (LRP5)
- Allelic: Hyperostosis, endosteal (LRP5)
- Allelic: Leukemia, acute myeloid (TERT)
- Allelic: Melanoma, cutaneous malignant, 9 (TERT)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Osteopetrosis, AD 1 (LRP5)
- Allelic: Osteoporosis (LRP5)
- Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
- Allelic: Osteosclerosis (LRP5)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: van Buchem disease, type 2 (LRP5)
- Association with polycystic liver disease 1 with or without renal cysts (SEC61B)
- COACH syndrome 1 (TMEM67)
- COACH syndrome 2 (CC2D2A)
- COACH syndrome 3 (RPGRIP1L)
- Cerebroretinal microangiopathy with calcifications and cysts 2 (STN1)
- Dyskeratosis congenita, AD 2 (TERT)
- Dyskeratosis congenita, AD 4 (RTEL1)
- Dyskeratosis congenita, AR 4 (TERT)
- Dyskeratosis congenita, AR 5 (RTEL1)
- Joubert syndrome 27 (B9D1)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 9 (B9D1)
- Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
- Polycystic kidney disease 1 (PKD1)
- Polycystic kidney disease 2 (PKD2)
- Polycystic kidney disease 3 (GANAB)
- Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
- Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
- Polycystic liver disease 1 (PRKCSH)
- Polycystic liver disease 2 (SEC63)
- Polycystic liver disease 3 with/-out kidney cysts (ALG8)
- Polycystic liver disease 4 with/-out kidney cysts (LRP5)
- Portal hypertension, noncirrhotic (DGUOK)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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