IllnessBohring-Opitz syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Bohring-Opitz syndrome containing 1 core gene and altogether 10 curated genes according to the clinical signs
ID
AP0450
Number of genes
10
Accredited laboratory test
Examined sequence length
4,7 kb (Core-/Core-canditate-Genes)
38,1 kb (Extended panel: incl. additional genes)
38,1 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 |
---|---|---|---|---|
ASXL1 | 4626 | NM_015338.6 | AD | |
ASXL2 | 4366 | NM_018263.6 | AD | |
ASXL3 | 6747 | NM_030632.3 | AD | |
CD96 | 1710 | NM_198196.3 | AD | |
HDAC8 | 1134 | NM_018486.3 | XL | |
KLHL7 | 1761 | NM_001031710.3 | AR | |
NIPBL | 8415 | NM_133433.4 | AD | |
RAD21 | 1896 | NM_006265.3 | AD | |
SMC1A | 3702 | NM_006306.4 | XL | |
SMC3 | 3654 | NM_005445.4 | AD |
Informations about the disease
Clinical Comment
Intrauterine growth retardation, failure to thrive, facial dysmorphism (prominent metopic suture, forehead nevus flammeus, low frontal + temporal hairline, hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip + palate, retrognathia, low set ears), flexion deformities of elbows + wrists, camptodactyly, ulnar deviation of fingers, foot anomalies + severe developmental delay. Mostly sporadically.
Synonyms
- Sympt.: Flexion of elbows + wrists, deviation of wrists + metacarpophalangeal joints
- Sympt.: Intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly
- Sympt.: Prominent metopic suture, exophth., naevus flamm., upslanting palpebral fissures, hirsutism
- Alias: C-like syndrome (ASXL1)
- Alias: Opitz trigonocephaly-like syndrome (ASXL1)
- Allelic: Mungan syndrome (RAD21)
- Allelic: Myelodysplastic syndrome, somatic (ASXL1)
- Allelic: Retinitis pigmentosa 42 (KLHL7)
- Bainbridge-Ropers syndrome (ASXL3)
- Bohring-Opitz syndrome (ASXL1)
- C syndrome (CD96)
- Cornelia de Lange syndrome 1 (NIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Cornelia de Lange syndrome 5 (HDAC8)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- PERCHING syndrome [Crisponi/cold-induced sweating syndrome] (KLHL7)
- Shashi-Pena syndrome (ASXL2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined