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  2. SPINK1

SPINK1

Analyte Export to PDF
Name:
serine peptidase inhibitor Kazal type 1
Symbol:
SPINK1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
PCTT
PSTI
Spink3
TATI
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Hereditary Pancreatitis (5 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR
    PRSS1
    SPINK1
    CPA1
    CTRC
  • Hereditary Pancreatitis IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR
    CPA1
    CTRC
    PRSS1
    SPINK1
  • Hereditary cancer predisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1 100.00 0
    ACD 100.00 0
    AIP 100.00 0
    AMER1 100.00 0
    APC 100.00 0
    ATM 100.00 0
    AXIN2 100.00 0
    BAP1 100.00 0
    BARD1 100.00 0
    BLM 100.00 0
    BMPR1A 100.00 0
    BRCA1 100.00 0
    BRCA2 100.00 0
    BRIP1 100.00 0
    BUB1B 100.00 0
    BUB3 100.00 0
    CDH1 100.00 0
    CDK12 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 100.00 0
    CHEK1 100.00 0
    CHEK2 100.00 0
    CTNNA1 100.00 0
    CTNNB1 100.00 0
    DICER1 100.00 0
    EDN3 100.00 0
    EDNRB 100.00 0
    EPCAM 100.00 0
    ERCC4 100.00 0
    FANCA 100.00 0
    FANCB 100.00 0
    FANCC 100.00 0
    FANCD2 100.00 0
    FANCE 100.00 0
    FANCF 100.00 0
    FANCG 100.00 0
    FANCI 100.00 0
    FANCL 100.00 0
    FANCM 100.00 0
    FH 100.00 0
    FLCN 100.00 0
    GDNF 100.00 0
    GREM1 100.00 0
    HNF1B 100.00 0
    HOXB13 100.00 0
    MAD2L2 100.00 0
    MAX 100.00 0
    MEN1 100.00 0
    MET 100.00 0
    MITF 100.00 0
    MLH1 100.00 0
    MRE11 100.00 0
    MSH2 100.00 0
    MSH3 100.00 0
    MSH6 100.00 0
    MUTYH 100.00 0
    NBN 100.00 0
    NRG3 100.00 0
    NRTN 100.00 0
    NTHL1 100.00 0
    PALB2 100.00 0
    PALLD 100.00 0
    PBRM1 100.00 0
    PMS2 100.00 0
    POLD1 100.00 0
    POLE 100.00 0
    POT1 100.00 0
    PPP2R2A 100.00 0
    PTEN 100.00 0
    RABL3 100.00 0
    RAD50 100.00 0
    RAD51 100.00 0
    RAD51B 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
    RAD54L 100.00 0
    RECQL 100.00 0
    RET 100.00 0
    RFWD3 100.00 0
    RNF43 100.00 0
    SDHA 100.00 0
    SDHAF2 100.00 0
    SDHB 100.00 0
    SDHC 100.00 0
    SDHD 100.00 0
    SEMA3C 100.00 0
    SEMA3D 100.00 0
    SLX4 100.00 0
    SMAD4 100.00 0
    SMARCA4 100.00 0
    SOX10 100.00 0
    SPINK1 100.00 0
    STK11 100.00 0
    SUCLG2 100.00 0
    TERF2IP 100.00 0
    TERT 100.00 0
    TMEM127 100.00 0
    TP53 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    UBE2T 100.00 0
    VHL 100.00 0
    WT1 100.00 0
    XRCC2 100.00 0
    MBD4 100.00 0
    NRG1 100.00 0
  • Pancreatitis (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRSS1
    SPINK1
  • Pancreatitis (7 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Part of custom Gastro-pneumo panel
    SPINK1 100.00 1 Part of custom Gastro-pneumo panel
    PRSS1 100.00 1 Part of custom Gastro-pneumo panel
    CTRC 100.00 1 Part of custom Gastro-pneumo panel
    CASR 100.00 1 Part of custom Gastro-pneumo panel
    CLDN2 100.00 1 Part of custom Gastro-pneumo panel + rs7057398
    CPA1 100.00 1 Part of custom Gastro-pneumo panel
  • Pancreatitis (7 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Core gene
    SPINK1 100.00 1 Core gene
    PRSS1 100.00 1 Core gene
    CASR 100.00 1
    CLDN2 100.00 1
    CPA1 100.00 1
    CTRC 100.00 1
  • Pancreatitis (7 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Duplications/deletions by MLPA
    SPINK1 100.00 0
    PRSS1 100.00 0 Only exons 2, 3, 4, 5 are amplified and analyzed by sequencing.
    CTRC 100.00 0
    CASR 100.00 0
    CLDN2 100.00 0
    CPA1 100.00 0
  • Pancreatitis idiopathic (3 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SPINK1
    CTRC
    PRSS1