Belgian Genetic Tests database- Diseases
- Carney complex
Carney complex
| Name: |
Carney complex
|
| Description: |
Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.
|
| ORPHAcode: |
1359
|
| Synonyms: |
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
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Onco-endocine pathologies (50 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIP 100.00 1 Part of Custom Onco-endocrino panel ALK 100.00 1 Part of Custom Onco-endocrino panel ARMC5 100.00 1 Part of Custom Onco-endocrino panel AXIN2 100.00 1 Part of Custom Onco-endocrino panel BAP1 100.00 1 Part of Custom Onco-endocrino panel CDK4 100.00 1 Part of Custom Onco-endocrino panel CDKN1B 100.00 1 Part of Custom Onco-endocrino panel CDKN2A 100.00 1 Part of Custom Onco-endocrino panel CYLD 100.00 1 Part of Custom Onco-endocrino panel DNMT3A 100.00 1 Part of Custom Onco-endocrino panel EGLN1 100.00 1 Part of Custom Onco-endocrino panel EGLN2 100.00 1 Part of Custom Onco-endocrino panel EGLN3 100.00 1 Part of Custom Onco-endocrino panel EPAS1 100.00 1 Part of Custom Onco-endocrino panel FH 100.00 1 Part of Custom Onco-endocrino panel FLCN 100.00 1 Part of Custom Onco-endocrino panel GOT2 100.00 1 Part of Custom Onco-endocrino panel HIF1A 100.00 1 Part of Custom Onco-endocrino panel HOXB13 100.00 1 Part of Custom Onco-endocrino panel IDH3B 100.00 1 Part of Custom Onco-endocrino panel KIF1B 100.00 1 Part of Custom Onco-endocrino panel KIT 100.00 1 Part of Custom Onco-endocrino panel KMT2D 100.00 1 Part of Custom Onco-endocrino panel MAX 100.00 1 Part of Custom Onco-endocrino panel MC1R 100.00 1 Part of Custom Onco-endocrino panel MDH1 100.00 1 Part of Custom Onco-endocrino panel MDH2 100.00 1 Part of Custom Onco-endocrino panel MEN1 100.00 1 Part of Custom Onco-endocrino panel MERTK 100.00 1 Part of Custom Onco-endocrino panel MET 100.00 1 Part of Custom Onco-endocrino panel MITF 100.00 1 Part of Custom Onco-endocrino panel NF1 100.00 1 Part of Custom Onco-endocrino panel PDGFRA 100.00 1 Part of Custom Onco-endocrino panel PHOX2B 100.00 1 Part of Custom Onco-endocrino panel POT1 100.00 1 Part of Custom Onco-endocrino panel PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel PTCH1 100.00 1 Part of Custom Onco-endocrino panel PTCH2 100.00 1 Part of Custom Onco-endocrino panel RB1 100.00 1 Part of Custom Onco-endocrino panel RET 100.00 1 Part of Custom Onco-endocrino panel SDHA 100.00 1 Part of Custom Onco-endocrino panel SDHAF1 100.00 1 Part of Custom Onco-endocrino panel SDHAF2 100.00 1 Part of Custom Onco-endocrino panel SDHAF3 100.00 1 Part of Custom Onco-endocrino panel SDHB 100.00 1 Part of Custom Onco-endocrino panel SDHC 100.00 1 Part of Custom Onco-endocrino panel SDHD 100.00 1 Part of Custom Onco-endocrino panel SUFU 100.00 1 Part of Custom Onco-endocrino panel TMEM127 100.00 1 Part of Custom Onco-endocrino panel VHL 100.00 1 Part of Custom Onco-endocrino panel -
Pituitary adenoma (4 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MEN1 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) AIP 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) CDKN1B 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) PRKAR1A 100.00 0 Coding exons and intronic borders +-14bp (Sanger sequencing)