IllnessVaskulopathie, hereditäre retinale; Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Vaskulopathy, hereditary retinal, comprising 11 or altogether 12 curated genes according to the clinical signs

VP9483

Number of loci

Loci type	Count
Gen	12

Accredited laboratory test

Examined sequence length

20,5 kb (Core-/Core-canditate-Genes)
23,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CAPN5	1923	602537	NM_004055.5	AD
CTC1	3654	613129	NM_025099.6	AR
CTNNB1	2346	116806	NM_001904.4	AD
FZD4	1614	604579	NM_012193.4	AD
LRP5	4848	603506	NM_002335.4	AR, AD
NDP	402	300658	NM_000266.4	XL
RCBTB1	1596	607867	NM_018191.4	AD, AR
TREX1	945	606609	NM_033629.6	AD, AR
TSPAN12	918	613138	NM_012338.4	AD, AR
ZNF408	2163	616454	NM_024741.3	AD, AR
IGFBP7	840	602867	NM_001253835.2	AR
VCAN	1968	118661	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined