English
Klinische FragestellungBranchio-oculo-faziales Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Branchio-oculo-faziales Syndrom mit 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
BP9945
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 13 |
Untersuchte Sequenzlänge
1,3 kb (Core-/Core-canditate-Gene)
25,0 kb (Erweitertes Panel: inkl. additional genes)
25,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| TFAP2A | 1296 | NM_001032280.3 | AD | |
| CHD7 | 8994 | NM_017780.4 | AD | |
| EDN3 | 717 | NM_207034.3 | AD, AR | |
| EDNRB | 1329 | NM_000115.5 | AD, AR | |
| EYA1 | 1779 | NM_000503.6 | AD | |
| MITF | 1260 | NM_000248.4 | AD, AR | |
| PAX3 | 1440 | NM_181457.4 | AD, AR | |
| SIX1 | 855 | NM_005982.4 | AD | |
| SIX5 | 2220 | NM_175875.5 | AD | |
| SNAI1 | 798 | NM_005985.4 | AD, AR | |
| SNAI2 | 807 | NM_003068.5 | AR | |
| SOX10 | 1401 | NM_006941.4 | AD | |
| TP63 | 2043 | NM_003722.5 | AD |
Infos zur Erkrankung
Synonyme
- Allelic: ABCD syndrome (EDNRB)
- Allelic: ADULT syndrome (TP63)
- Allelic: Anterior segment anomalies with/-out cataract (EYA1)
- Allelic: Central hypoventilation syndrome, congenital (EDN3)
- Allelic: Deafness, AD 23 (SIX1)
- Allelic: Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
- Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
- Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Limb-mammary syndrome (TP63)
- Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
- Allelic: Piebaldism (SNAI2)
- Allelic: Rapp-Hodgkin syndrome (TP63)
- Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
- Allelic: Split-hand/foot malformation 4 (TP63)
- Allelic: Tietz albinism-deafness syndrome (MITF)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootic syndrome 1 (EYA1)
- Branchiootic syndrome 3 (SIX1)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- CHARGE syndrome (CHD7)
- COMMAD syndrome (MITF)
- Craniofacial-deafness-hand syndrome (PAX3)
- Hay-Wells syndrome (TP63)
- Orofacial cleft 8 (TP63)
- Otofaciocervical syndrome (EYA1)
- PCWH syndrome (SOX10)
- Waardenburg syndrome, type 1 (PAX3)
- Waardenburg syndrome, type 2A (MITF)
- Waardenburg syndrome, type 2D (SNAI2)
- Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
- Waardenburg syndrome, type 3 (PAX3)
- Waardenburg syndrome, type 4A (EDNRB)
- Waardenburg syndrome, type 4B (EDN3)
- Waardenburg syndrome, type 4C (SOX10)
- Waardenburg syndrome/ocular albinism, digenic (MITF)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
Kein Text hinterlegt