Deutsch
IllnessAu-Kline syndrome; differential diagnosis
Summary
Short information
Differential diagnostic panel for Au-Kline syndrome comprising 13 curated genes according to the clinical signs
ID
AP9231
Number of genes
13
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
40,4 kb (Extended panel: incl. additional genes)
40,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| HNRNPK | 1442 | NM_002140.5 | AD | |
| BRAF | 2301 | NM_004333.6 | AD | |
| GPC3 | 1743 | NM_004484.4 | XLR | |
| GPC4 | 1671 | NM_001448.3 | XLR | |
| KDM6A | 4206 | NM_021140.4 | XL | |
| KMT2D | 16614 | NM_003482.4 | AD | |
| KRAS | 567 | NM_004985.5 | AD | |
| MAP2K1 | 1182 | NM_002755.4 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RIT1 | 660 | NM_006912.6 | AD | |
| SKI | 2187 | NM_003036.4 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD |
Informations about the disease
Synonyms
- Alias: Neurolog. Entwicklungsstörungen-kranio-faziale Dysmorphie-Herzfehler-Skelettanomalien
- Alias: Okamoto syndrome (HNRNPK)
- Au-Kline syndrome (HNRNPK)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Keipert syndrome (GPC4)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 7 (BRAF)
- Noonan syndrome 8 (RIT1)
- Shprintzen-Goldberg syndrome (SKI)
Heredity, heredity patterns etc.
- AD
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined