Deutsch
IllnessVasculopathy, hereditary retinal; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Vaskulopathy, hereditary retinal, containing 10 core candidate genes and altogether 13 curated genes according to the clinical signs
ID
VP9483
Number of genes
12
Accredited laboratory test
Examined sequence length
20,5 kb (Core-/Core-canditate-Genes)
23,3 kb (Extended panel: incl. additional genes)
23,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CAPN5 | 1923 | NM_004055.5 | AD | |
| CTC1 | 3654 | NM_025099.6 | AR | |
| CTNNB1 | 2346 | NM_001904.4 | AD | |
| FZD4 | 1614 | NM_012193.4 | AD | |
| LRP5 | 4848 | NM_002335.4 | AR, AD | |
| NDP | 402 | NM_000266.4 | XL | |
| RCBTB1 | 1596 | NM_018191.4 | AD, AR | |
| TREX1 | 945 | NM_033629.6 | AD, AR | |
| TSPAN12 | 918 | NM_012338.4 | AD, AR | |
| ZNF408 | 2163 | NM_024741.3 | AD, AR | |
| IGFBP7 | 840 | NM_001253835.2 | AR | |
| VCAN | 1968 | NM_004385.5 | AD |
Informations about the disease
Clinical Comment
Group of heterogenous retinovascular diseases causing e.g. exudative vitreoretinopathy
Synonyms
- Alias: Rare genetic retinal vasculopathy
- Allelic: Norrie disease (NDP)
- Allelic: Retinopathy of prematurity (FZD4)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Exudative vitreoretinopathy 1 (FZD4)
- Exudative vitreoretinopathy 2, XL (NDP)
- Exudative vitreoretinopathy 4 (LRP5)
- Exudative vitreoretinopathy 5 (TSPAN12)
- Exudative vitreoretinopathy 6 (ZNF408)
- Exudative vitreoretinopathy 7 (CTNNB1)
- Macular dystrophy, patterned, 2 (CTNNA1)
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (IGFBP7)
- Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
- Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
- Vitreoretinopathy, neovascular inflammatory (CAPN5)
- Wagner syndrome 1 (VCAN)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined