Belgian Genetic Tests database- Diseases
- Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome
| Name: |
Cardiofaciocutaneous syndrome
|
| Description: |
A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.
|
| ORPHAcode: |
1340
|
| Synonyms: |
CFC syndrome
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
-
Cardiofaciocutaneous syndrome (5 genes))
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments HRAS KRAS BRAF MAP2K1 MAP2K2 -
Congenital heart disease (29 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANK3 0.00 0 No value for column 2 BMPR2 0.00 0 No value for column 2 BRAF 0.00 0 No value for column 2 CFC1 0.00 0 No value for column 2 CITED2 0.00 0 No value for column 2 CRELD1 0.00 0 No value for column 2 GATA4 0.00 0 No value for column 2 GATA5 0.00 0 No value for column 2 GATA6 0.00 0 No value for column 2 GDF1 0.00 0 No value for column 2 GJA1 0.00 0 No value for column 2 HAND1 0.00 0 No value for column 2 HAND2 0.00 0 No value for column 2 JAG1 0.00 0 No value for column 2 KRAS 0.00 0 No value for column 2 MAP2K1 0.00 0 No value for column 2 MAP2K2 0.00 0 No value for column 2 MED13L 0.00 0 No value for column 2 NKX2-5 0.00 0 No value for column 2 NKX2-6 0.00 0 No value for column 2 PRKAG2 0.00 0 No value for column 2 PRKAR1A 0.00 0 No value for column 2 SMAD3 0.00 0 No value for column 2 TBX1 0.00 0 No value for column 2 TBX20 0.00 0 No value for column 2 TBX3 0.00 0 No value for column 2 TBX5 0.00 0 No value for column 2 TLL1 0.00 0 No value for column 2 ZFPM2 0.00 0 No value for column 2 -
RASopathy - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range BRAF 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range CBL 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range HRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range KRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range LZTR1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MAP2K1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MAP2K2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range NRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range PPP1CB 95.00 0 core gene +% of coding sequence represents the minimum CS1 interpretable range PTPN11 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RAF1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RASA1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RASA2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RIT1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RRAS 80.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RRAS2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range SHOC2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range SOS1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range SOS2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range