1. Diseases
  2. Turcot syndrome with polyposis

Turcot syndrome with polyposis

Disease Export to PDF
Name:
Turcot syndrome with polyposis
Description:

Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
ORPHAcode:
99818
XREF(s):
OMIM
Created:
03 Aug 2018 - 10:51
Changed:
03 Aug 2018 - 10:51
  • Hereditary Polyposis Panel (11 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 CNV assessed by MLPA
    MUTYH 100.00 1 CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit)
    BMPR1A 100.00 0
    NTHL1 100.00 0
    SMAD4 100.00 0
    MSH3 100.00 0
    POLE 100.00 0
    POLD1 100.00 0
    PTEN 100.00 1 CNV assessed by MLPA (on demand)
    STK11 100.00 0
    GREM1 100.00 1 CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit)