English
ErkrankungUsher-Syndrom Typ 1 + 2 + 3, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Usher-Syndrom Typ 1-3 mit67 bzw. zusammen genommen 1 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
UP0010
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
60,9 kb (Core-/Basis-Gene)
77,4 kb (Erweitertes Panel)
77,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ADGRV1 | 18921 | AD und/oder AR | |
| CDH23 | 10065 | AR und/oder Dig | |
| CLRN1 | 699 | AR | |
| MYO7A | 6648 | AD und/oder AR und/oder Dig | |
| PCDH15 | 5868 | AR und/oder Dig | |
| USH1C | 1659 | AR und/oder Dig | |
| USH1G | 1386 | AR | |
| USH2A | 15609 | AR | |
| ABHD12 | 1197 | AR | |
| CEP250 | 7329 | AR | |
| CIB2 | 564 | AR | |
| HARS1 | 1530 | AD und/oder AR | |
| PDZD7 | 3102 | AR | |
| WHRN | 2724 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Association of sensorineural deafness (usually congenital) with retinitis pigmentosa + progressive vision loss
Synonyme
- Alias: Retinitis pigmentosa + congenital deafness
- Alias: Retinitis pigmentosa-deafness syndrome
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
- Allelic: Deafness, AD (MYO7A)
- Allelic: Deafness, AR 12 (CDH23)
- Allelic: Deafness, AR 18A (USH1C)
- Allelic: Deafness, AR 2 (MYO7A)
- Allelic: Deafness, AR 31 (WHRN)
- Allelic: Deafness, AR 48 (CIB2)
- Allelic: Deafness, AR 57 (ADGRV1)
- Allelic: Febrile seizures, familial, 4 (ADGRV1)
- Allelic: Pituitary adenoma 5, multiple types (CDH23)
- Allelic: Retinitis pigmentosa 39 (USH2)
- Allelic: Retinitis pigmentosa 61 (CLRN1)
- Cone-rod dystrophy + hearing loss 2 (CEP250)
- Retinal disease in Usher syndrome type 2A, modifier of (ADGRV1)
- Usher syndrome, type 1B (MYO7A)
- Usher syndrome, type 1C (USH1C)
- Usher syndrome, type 1D (CDH23)
- Usher syndrome, type 1D/F Dig (CDH23/PCDH15)
- Usher syndrome, type 1F (PCDH15)
- Usher syndrome, type 1G (USH1G)
- Usher syndrome, type 1J (CIB2)
- Usher syndrome, type 2A (USH2A)
- Usher syndrome, type 2C (ADGRV1)
- Usher syndrome, type 2C (ADGRV1/PDZD7 Dig)
- Usher syndrome, type 2D (WHRN)
- Usher syndrome, type 3A (CLRN1)
- Usher syndrome, type 3B (HARS1)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
- AR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatik und klinische Interpretation
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