English
Klinische FragestellungNachtblindheit, kongenital; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Nachtblindheit, kongenital, mit 10 "core candidate"-Genen bzw. zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP0550
Anzahl Gene
21
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,9 kb (Core-/Core-canditate-Gene)
46,9 kb (Erweitertes Panel: inkl. additional genes)
46,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CABP4 | 828 | NM_145200.5 | AR | |
| CACNA1F | 5934 | NM_005183.4 | XLR | |
| GNAT1 | 1053 | NM_000172.4 | AD, AR | |
| GPR179 | 7104 | NM_001004334.4 | AR | |
| GRM6 | 2634 | NM_000843.4 | AR | |
| NYX | 1446 | NM_022567.2 | XLR | |
| PDE6B | 2565 | NM_000283.4 | AD, AR | |
| RHO | 1047 | NM_000539.3 | AD, AR | |
| SLC24A1 | 1281 | NM_001254740.2 | AR | |
| TRPM1 | 4929 | NM_001252020.2 | AR | |
| CACNA2D4 | 3414 | NM_172364.5 | AR | |
| FRMD7 | 2145 | NM_194277.3 | XL | |
| GNB3 | 1023 | NM_002075.4 | AR | |
| GRK1 | 1692 | NM_002929.3 | AR | |
| GUCY2D | 3312 | NM_000180.4 | AD, AR | |
| LRIT3 | 2040 | NM_198506.5 | AR | |
| RBP4 | 606 | NM_006744.4 | AR, AD | |
| RDH5 | 957 | NM_002905.5 | AD, AR | |
| RLBP1 | 954 | NM_000326.5 | AD, AR | |
| RS1 | 675 | NM_000330.4 | XLR | |
| SAG | 1218 | NM_000541.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Nicht-progressive Gruppe von Netzhautstörungen mit Nacht- oder Schwachlichtsehstörungen/verzögerter Dunkeladaptation, schlechter Sehschärfe, Myopie (-0,25 Dioptrien bis -5 D bis ≥-10 D), Nystagmus, Schielen, normalem Farbsehen, Fundusanomalien
Synonyme
- Alias: Congenital essential nyctalopia
- Alias: Night blindness (congenital stationary)
- Allelic: Choroidal dystrophy, central areolar 1 (GUCY2)
- Allelic: Cone-rod dystrophy 6 (GUCY2D)
- Allelic: Leber congenital amaurosis 1 (GUCY2D)
- Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
- Allelic: Newfoundland rod-cone dystrophy (RLBP1)
- Allelic: Nystagmus, infantile periodic alternating, XL (FRMD7)
- Allelic: Retinitis pigmentosa-40 (PDE6B)
- Aland Island eye disease (CACNA1F)
- Blue cone monochromacy (OPN1LW, OPN1MW)
- Bothnia retinal dystrophy (RLBP1)
- Colorblindness, deutan (OPN1MW)
- Colorblindness, protan (OPN1LW)
- Cone-rod dystrophy, XL, 3 (CACNA1F)
- Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
- Fundus albipunctatus (RDH5)
- Fundus albipunctatus (RLBP1)
- Hypertension, essential, susceptibility to Night blindness, congenital stationary, type 1H (GNB3)
- Night blindness, congenital stationary (complete), 1A, XL (NYX)
- Night blindness, congenital stationary (complete), 1B, AR (GRM6)
- Night blindness, congenital stationary (complete), 1C, AR (TRPM1)
- Night blindness, congenital stationary (complete), 1D, AR (SLC24A1)
- Night blindness, congenital stationary (complete), 1E, AR (GPR179)
- Night blindness, congenital stationary (complete), 1F, AR (LRIT3)
- Night blindness, congenital stationary (incomplete), 2A, XL (CACNA1F)
- Night blindness, congenital stationary, 1G (GNAT1)
- Night blindness, congenital stationary, AD 1 (RHO)
- Night blindness, congenital stationary, AD 2 (PDE6B)
- Night blindness, congenital stationary, AD 3 (GNAT1)
- Night blindness, congenital stationary, type 1I (GUCY2D)
- Nystagmus 1, congenital, XL (FRMD7)
- Oguchi disease-2 (GRK1)
- Retinal cone dystrophy 4 (CACNA2D4)
- Retinal dystrophy, iris coloboma, comedogenic acne syndrome (RBP4)
- Retinitis pigmentosa 4, AD or AR (RHO)
- Retinitis pigmentosa 47 (SAG)
- Retinitis punctata albescens (RHO)
- Retinitis punctata albescens (RLBP1)
- Retinoschisis (RS1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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