Deutsch
IllnessBurn-McKeown syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Burn-McKeown syndrome comprising 9 curated genes according to the clinical signs
ID
BP2279
Number of genes
9
Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
24,3 kb (Extended panel: incl. additional genes)
24,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| TXNL4A | 429 | NM_006701.5 | AR | |
| CHD7 | 8994 | NM_017780.4 | AD | |
| DHODH | 1188 | NM_001361.5 | AR | |
| EFTUD2 | 2919 | NM_004247.4 | AD | |
| POLR1B | 3538 | NM_001137604.3 | AD | |
| POLR1C | 1041 | NM_203290.4 | AR | |
| POLR1D | 402 | NM_015972.4 | AD, AR | |
| SF3B4 | 1275 | NM_005850.5 | AD | |
| TCOF1 | 4467 | NM_001135243.2 | AD |
Informations about the disease
Synonyms
- Alias: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Alias: Oculootofacial dysplasia
- Alias: TXNL4A-related craniofacial disorder
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- Burn-McKeown syndrome (TXNL4A)
- CHARGE Colob., Heart def., choanal Atresia, Ret. growth/dev., Genital hypopl., Ear anom. syn. (CHD7)
- Hypogonadotropic hypogonadism 5 +/- anosmia (CHD7)
- Mandibulofacial dysostosis without limb anomalies (SF3B4)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Postaxial acrofacial dysostosis [Miller syndrome] (DHODH)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
- Treacher Collins syndrome 4 (POLR1B)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined