IllnessChoanal atresia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for choanal atresia containing 1 core gene, 9 core candidate genes and altogether 17 curated genes, respectively, according to the clinical signs

CP3210

Number of genes

16 Accredited laboratory test

Examined sequence length

23,7 kb (Core-/Core-canditate-Genes)
46,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CHD7	8994	608892	NM_017780.4	AD
CTNND1	2907	601045	NM_001085458.2	AD
EFTUD2	2919	603892	NM_004247.4	AD
FAM20C	1755	611061	NM_020223.4	AR
FGFR2	2466	176943	NM_000141.5	AD
FGFR3	2421	134934	NM_000142.5	AD
FOXE1	1122	602617	NM_004473.4	AR
SPINT2	588	605124	NM_001166103.2	AR
TXNL4A	429	611595	NM_006701.5	AR
POLR1C	1041	610060	NM_203290.4	AR
POLR1D	402	613715	NM_015972.4	AR, AD
PTPN14	3564	603155	NM_005401.5	AR
SALL4	3162	607343	NM_020436.5	AD
SEMA3E	2328	608166	NM_012431.3	AD
TCOF1	4467	606847	NM_001135243.2	AD
USP9X	7713	300072	NM_001039590.3	XL

Informations about the disease

Clinical Comment

Congenital anomaly of posterior nasal airway with obstruction (unilatera/bilateral), clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction

Synonyms

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)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined