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IllnessDuctal plate malformations, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Ductal plate malformations comprising 13 or altogether 18 curated genes according to the clinical signs
ID
GP5656
Number of loci
| Locus type | Count |
|---|---|
| Gen | 18 |
Examined sequence length
55,0 kb (Core-/Core-canditate-Genes)
64,3 kb (Extended panel: incl. additional genes)
64,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| 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 |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined