Belgian Genetic Tests database- Analytes
- EPAS1
EPAS1
| Name: |
endothelial PAS domain protein 1
|
| Symbol: |
EPAS1
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
HIF-1 alpha-like factor
HIF2A
HLF
MOP2
PASD2
bHLHe73
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
- Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
- Myeloid/lymphoid neoplasms with germline predisposition (gene panel)
- Onco-endocrine pathologies (gene panel)
- Paraganglioma and pheochromocytoma (gene panel)
- Pediatric oncopredisposition (gene panel)
- « Inherited bone marrow failures syndromes » with or without organ dysfunction
-
Congenital or familial erythrocytosis (5 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments JAK2 0.00 0 EPO 0.00 0 EPOR 0.00 0 VHL 0.00 0 EPAS1 0.00 0 EGLN1 0.00 0 -
Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANKRD26 0.00 0 BPGM 0.00 0 CSF1R 0.00 0 CSF3R 0.00 0 DDX41 0.00 0 EGLN1 0.00 0 ELANE 0.00 0 EPAS1 0.00 0 EPO 0.00 0 EPOR 0.00 0 GATA2 0.00 0 JAK1 0.00 0 JAK2 0.00 0 JAK3 0.00 0 MPL 0.00 0 PIEZO1 0.00 0 SLC30A10 0.00 0 STAT3 0.00 0 STAT5B 0.00 0 THPO 0.00 0 VHL 0.00 0 SH2B3 0.00 0 -
Hematologic Familiar Forms - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments RPS7 88.11 0 No CHEK2 80.48 0 No PTPN11 95.76 0 No KRAS 96.88 0 No RPS10 98.48 0 No FANCM 97.86 0 No RPL35A 98.16 0 No RPS24 98.39 0 No ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position RPL5 96.83 0 No SHQ1 97.53 0 No RPS26 98.64 0 No SRP72 97.98 0 No FANCL 98.99 0 No EGLN1 98.71 0 No JAK2 97.81 0 No DNAJC21 98.55 0 No NF1 96.15 0 No BLM 98.77 0 No SBF2 99.19 0 No MSH2 98.36 0 No ATM 98.90 0 No ERCC4 98.33 0 No RPL11 99.02 0 No NBN 99.57 0 No PMS2 98.87 0 No ATG2B 99.33 0 No BRCA2 99.11 0 No ERCC6L2 99.48 0 No ATR 99.19 0 No VPS45 99.60 0 No SRP54 99.44 0 No SBDS 96.51 0 No UBE2T 98.01 0 No RBM8A 99.34 0 No RAD51C 99.83 0 No FANCC 99.72 0 No FANCD2 99.00 0 No BRIP1 99.61 0 No BRCA1 99.80 0 No CEBPA 99.48 0 No PARN 99.84 0 No MSH6 99.84 0 No MECOM 99.83 0 No PALB2 99.80 0 No FANCE 97.83 0 No PAX5 99.72 0 No RAD51 99.94 0 No ATRX 99.85 0 No FANCB 99.61 0 No FANCI 99.66 0 No STN1 99.75 0 No NHP2 99.79 0 No MLH1 99.86 0 No TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position XRCC2 99.97 0 No FANCA 99.93 0 No EPAS1 99.62 0 No TET2 99.97 0 No HAX1 99.98 0 No SLX4 99.98 0 No CBL 99.87 0 No WAS 99.90 0 No USB1 100.00 0 No EPO 99.99 0 No VHL 99.98 0 No MAD2L2 100.00 0 No RUNX1 99.94 0 No CTC1 99.99 0 No GSKIP 99.99 0 No DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position SAMD9L 99.96 0 No MPL 99.99 0 No ETV6 100.00 0 No LIG4 99.98 0 No NOP10 99.99 0 No G6PC3 100.00 0 No CSF3R 100.00 0 No SAMD9 100.00 0 No ELANE 100.00 0 No GATA2 100.00 0 No RPS19 100.00 0 No GFI1 100.00 0 No FANCF 100.00 0 No TPP1 99.99 0 No FANCG 100.00 0 No WRAP53 100.00 0 No TP53 100.00 0 No TINF2 100.00 0 No EPOR 100.00 0 No DDX41 100.00 0 No THPO 100.00 0 No TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS -
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 -
Pediatric oncopredisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.97 1 ABCB11 99.86 1 ACD 100.00 1 AIP 99.99 1 ALK 99.93 1 APC 99.97 1 ASXL1 100.00 1 ATM 99.83 1 RNF2 99.99 1 BLM 99.80 1 BMPR1A 99.58 1 BRAF 99.78 1 BRCA1 98.33 1 BRCA2 99.99 1 BRIP1 99.39 1 BUB1B 100.00 1 CBL 99.95 1 CD27 99.95 1 CD70 99.99 1 CDC73 99.60 1 CDH1 99.98 1 CDK4 100.00 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDKN2A 100.00 1 CEBPA 100.00 1 CEP57 99.92 1 CREBBP 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTR9 99.98 1 DDB2 100.00 1 DICER1 99.96 1 DIS3L2 99.90 1 DKC1 99.59 1 DNAJC21 99.67 1 EFL1 99.83 1 EGLN1 99.86 1 EGLN2 99.97 1 ELP1 99.96 1 EPAS1 99.99 1 EPCAM 99.89 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6L2 99.94 1 ETV6 99.99 1 EZH2 99.89 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FAS 99.99 1 FBXW7 99.90 1 FH 99.95 1 GATA1 99.97 1 GATA2 99.99 1 GPC3 99.60 1 GPC4 99.89 1 GPR161 99.92 1 HAVCR2 99.93 1 HRAS 100.00 1 IKZF1 99.92 1 ITK 99.91 1 KRAS 99.13 1 L2HGDH 99.92 1 LIG4 100.00 1 LZTR1 99.46 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAX 99.96 1 MDH2 99.54 1 MDM4 99.43 1 MEN1 99.98 1 MLH1 99.64 1 MRAS 99.97 1 MSH2 99.23 1 MSH6 99.97 1 MYSM1 94.16 1 NBN 99.93 1 NF1 99.88 1 NF2 100.00 1 NHP2 99.96 1 NOP10 99.99 1 NRAS 99.66 1 NSD1 99.98 1 PALB2 99.71 1 PARN 99.75 1 PAX5 99.82 1 PHOX2B 99.98 1 PIK3CA 99.74 1 PMS2 70.47 1 POLD1 99.96 1 POLE 99.99 1 POLH 99.85 1 POT1 99.91 1 PPP1CB 99.89 1 PRF1 100.00 1 PRKAR1A 100.00 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 RAF1 99.97 1 RB1 99.84 1 RECQL4 100.00 1 REST 99.99 1 RET 99.97 1 RIT1 99.78 1 RMRP 100.00 1 RPL11 99.81 1 RPL15 31.77 1 RPL18 100.00 1 RPL26 30.55 1 RPL27 99.83 1 RPL35 99.99 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS15A 22.14 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS27 27.45 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RRAS 99.98 1 RRAS2 99.94 1 RTEL1 100.00 1 RUNX1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SBDS 99.93 1 SDHA 99.98 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHC 99.67 1 SDHD 82.93 1 SETBP1 100.00 1 SH2D1A 98.98 1 SHOC2 99.96 1 SLX4 100.00 1 SMARCA4 99.99 1 SMARCB1 99.99 1 SMARCE1 99.87 1 SOS1 99.68 1 SOS2 99.39 1 SRP72 99.91 1 STK11 100.00 1 SUFU 100.00 1 TERC 98.59 1 TERT 100.00 1 TINF2 100.00 1 TMEM127 99.99 1 TP53 99.98 1 TRIM28 100.00 1 TRIM37 98.19 1 TRIP13 100.00 1 TSC1 99.99 1 TSC2 99.98 1 TSR2 99.96 1 UBE2T 99.89 1 USB1 89.62 1 VHL 100.00 1 WAS 99.90 1 WRAP53 100.00 1 WT1 99.99 1 XPA 99.68 1 XPC 99.98 1 SRP54 99.90 1