Deutsch
IllnessKoolen-de Vries syndrome; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Koolen-de Vries syndrome comprising altogether 8 curated genes according to the clinical signs
ID
KP7119
Number of genes
8
Accredited laboratory test
Examined sequence length
3,4 kb (Core-/Core-canditate-Genes)
19,3 kb (Extended panel: incl. additional genes)
19,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
- Heparin-anticoagulated blood (3-5 ml; infants 1 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
illness_clinical comment for KP7119
Synonyms
- Alias: Koolen syndrome
- Alias: 17q21.31 deletion syndrome
- Alias: 17q21.31 microdeletion syndrome
- Alias: Chromosome 17q21.31 deletion syndrome
- Alias: Chromosome 17q21.31 microdeletion syndrome
- Alias: KANSL1-related intellectual disability syndrome
- Alias: KDVS
- Alias: Microdeletion 17q21.31 syndrome
- Alias: Monosomy 17q21.31
- Allelic: Noonan syndrome 3 (KRAS)
- Allelic: Noonan syndrome 7 (BRAF)
- Angelman syndrome (UBE3A)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Cardiofaciocutaneous syndrome 4 (MAP2K2)
- Desanto-Shinawi syndrome (WAC)
- Koolen-De Vries syndrome (KANSL1)
- LEOPARD syndrome 3 LEOPARD syndrome 3 (BRAF)
- Ohdo syndrome, SBBYS variant (KAT6B)
- Say-Barber-Biesecker-Young-Simpson syndrome, SBBYS (KAT6B)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined