1. Analytes
  2. EGLN1

EGLN1

Analyte Export to PDF
Name:
egl-9 family hypoxia inducible factor 1
Symbol:
EGLN1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
HIF prolyl hydroxylase 2
HIFPH2
PHD2
SM-20
ZMYND6
XREF(s):
Orphanet
Genatlas
HGNC
OMIM
Reactome
SwissProt
Ensembl
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • 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