Klinische FragestellungChoanalatresie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Choanalatresie mit 1 "core"-Gen, 9 "core candidate"-Genen bzw. insgesamt 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP3210
Anzahl Gene
16
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,7 kb (Core-/Core-canditate-Gene)
46,3 kb (Erweitertes Panel: inkl. additional genes)
46,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CHD7 | 8994 | NM_017780.4 | AD | |
CTNND1 | 2907 | NM_001085458.2 | AD | |
EFTUD2 | 2919 | NM_004247.4 | AD | |
FAM20C | 1755 | NM_020223.4 | AR | |
FGFR2 | 2466 | NM_000141.5 | AD | |
FGFR3 | 2421 | NM_000142.5 | AD | |
FOXE1 | 1122 | NM_004473.4 | AR | |
SPINT2 | 588 | NM_001166103.2 | AR | |
TXNL4A | 429 | NM_006701.5 | AR | |
POLR1C | 1041 | NM_203290.4 | AR | |
POLR1D | 402 | NM_015972.4 | AR, AD | |
PTPN14 | 3564 | NM_005401.5 | AR | |
SALL4 | 3162 | NM_020436.5 | AD | |
SEMA3E | 2328 | NM_012431.3 | AD | |
TCOF1 | 4467 | NM_001135243.2 | AD | |
USP9X | 7713 | NM_001039590.3 | XL |
Infos zur Erkrankung
Klinischer Kommentar
Kongenitale Anomalie der hinteren Nasenatmungswege mit Obstruktion (unilateral/bilateral), klinische Manifestationen von akuter Atemnot bis zu chronischer Nasenobstruktion
Synonyme
- Alias: Atresia choanae, Choanal stenosis
- Allelic: Achondroplasia (FGFR3)
- Allelic: Bent bone [dysplasia] syndrome (FGFR2)
- Allelic: Bladder cancer, somatic (FGFR3)
- Allelic: Cervical cancer, somatic (FGFR3)
- Allelic: Colorectal cancer, somatic (FGFR3)
- Allelic: Gastric cancer, somatic (FGFR2)
- Allelic: Hypochondroplasia (FGFR3)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Hypothyroidism, thyroidal/athyroidal, spiky hair, cleft palate (FOXE1)
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Allelic: Nevus, epidermal, somatic (FGFR3)
- Allelic: SADDAN (FGFR3)
- Allelic: Severe achondroplasia with developmental delay and acanthosis nigricans, SADDAN (FGFR3)
- Allelic: Spermatocytic seminoma, somatic (FOXE1)
- Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
- Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
- Allelic: Thyroid cancer, nonmedullary, 4 (FGFR3)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Apert syndrome (FGFR2)
- Bamforth-Lazarus syndrome (FOXE1)
- Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Blepharocheilodontic syndrome 2 (CTNND1)
- Burn-McKeown syndrome: Oculo oto facial dysplasia (TXNL4A)
- CHARGE syndrome (CHD7, SEMA3E)
- Camptodactyly, tall stature, hearing loss syndrome, CATSHLS (FGFR3)
- Choanal atresia and lymphedema (PTPN14)
- Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Craniosynostosis, nonspecific (FGFR2)
- Crouzon syndrome (FGFR2)
- Crouzon syndrome with acanthosis nigricans (FGFR3`)
- Duane-radial ray [Okihiro] syndrome (SALL4)
- IVIC syndrome (SALL4)
- Jackson-Weiss syndrome (FGFR2)
- LADD syndrome (FGFR3)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Mental retardation, X-linked 99, syndromic, female-restricted (USPE9X)
- Muenke syndrome (FGFR3)
- Pfeiffer syndrome (FGFR2)
- Raine syndrome (FAM20C)
- Saethre-Chotzen syndrome (FGFR2)
- Scaphocephaly, maxillary retrusion, mental retardation (FGFR2)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
- Treacher-Collins syndrome 4 (POLR1B)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q30.0
Bioinformatik und klinische Interpretation
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