Belgian Genetic Tests database- Diseases
- Sporadic secreting paraganglioma
Sporadic secreting paraganglioma
| Name: |
Sporadic secreting paraganglioma
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| Description: |
A rare tumor of endocrine glands characterized by a sporadic, extra-adrenal, catecholamine-secreting, chromaffin cell tumor located anywhere along the sympathetic ganglia (most frequently in the abdomen and pelvis), typically manifesting with episodic hypertension, cephalea, diaphoresis, heart palpitations, and, occasionally, hyperglycemia, anxiety/panic attacks, fever, weight loss, myocardial infarction, osteolytic bone metastases, and Raynaud's phenomenon.
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| ORPHAcode: |
276627
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
01 Feb 2020 - 12:07
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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 -
Paraganglioma and pheochromocytoma (29 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments 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 GOT2 100.00 1 Part of custom Onco-endocrino panel HIF1A 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 KMT2D 100.00 1 Part of custom Onco-endocrino panel MAX 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 NF1 100.00 1 Part of custom Onco-endocrino panel PRKAR1A 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 TMEM127 100.00 1 Part of custom Onco-endocrino panel VHL 100.00 1 Part of custom Onco-endocrino panel