Belgian Genetic Tests database- Diseases
- CLOVES syndrome
CLOVES syndrome
| Name: |
CLOVES syndrome
|
| Description: |
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
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| ORPHAcode: |
140944
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| Synonyms: |
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
|
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Overgrowth (24 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADARB2 100.00 1 NM_018702.4 AKT1 100.00 1 NM_001014431.2 AKT3 100.00 1 NM_005465.7 BRWD3 100.00 1 NM_153252.5 CDKN1C 100.00 1 NM_001362474.2 CHD3 100.00 1 NM_001005273.3 CHD8 100.00 1 NM_001170629.2 DIS3L2 100.00 1 NM_152383.4 DNMT3A 100.00 1 NM_175629.2 EED 100.00 1 NM_003797.5 EZH2 100.00 1 NM_004456.5 GPC3 100.00 1 NM_001164617.2 H1-4 100.00 1 NM_005321.3 KMT5B 100.00 1 NM_017635.5 MTOR 100.00 1 NM_004958.4 NFIX 100.00 1 NM_002501.4 NSD1 100.00 1 NM_022455.4 PDGFRB 100.00 1 NM_002609.4 PIK3CA 100.00 1 NM_006218.4 PPP2R5C 100.00 1 NM_001161725.1 PPP2R5D 100.00 1 NM_006245.4 PTEN 100.00 1 NM_000314.8 SETD2 100.00 1 NM_014159.6 TCF20 100.00 1 NM_005650.3 -
Vascular malformations (somatic) (19 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AKT1 0.00 0 exon 3 AKT2 0.00 0 exon 3 AKT3 0.00 0 exons 7 and 13 BRAF 0.00 0 exons 2 and 11 and 15 GNA11 0.00 0 exons 4 and 5 GNA14 0.00 0 exon 5 GNAQ 0.00 0 exons 4 and 5 HRAS 0.00 0 exons 2 - 4 IDH1 0.00 0 exon 4 IDH2 0.00 0 exon 4 KRAS 0.00 0 exons 2 - 4 MAP3K3 0.00 0 exon 14 MAP2K1 0.00 0 exons 2 and 3 NRAS 0.00 0 exons 2 - 4 PIK3CA 100.00 0 exons 2 - 21 PIK3R1 0.00 0 exons 11 - 13 PIK3R2 0.00 0 exon 10 PTEN 100.00 0 exons 1 - 9 TEK 0.00 0 exons 17 and 22 and 23 -
epidermal nevus syndrome (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene H3-3A 0.00 0 Only hotspots in the gene H3C2 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene