- Diseases
- NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related attenuated familial adenomatous polyposis
Name: |
NTHL1-related attenuated familial adenomatous polyposis
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ORPHAcode: |
454840
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Synonyms: |
NTHL1-related AFAP
NTHL1-related attenuated FAP
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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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) -
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 BMPR1A 100.00 1 GREM1 100.00 1 CNV for recurrent 40kb duplication MLH1 100.00 1 MSH2 100.00 1 MSH3 100.00 0 MSH6 100.00 1 MUTYH 100.00 1 NTHL1 100.00 0 PMS2 100.00 1 POLD1 100.00 0 POLE 100.00 1 PTEN 100.00 1 SMAD4 100.00 1 STK11 100.00 1 RNF43 100.00 0 AXIN2 100.00 0 EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2 -
Hereditary predisposition to cancer (47 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 AXIN2 100.00 1 NM_004655.4 CDK4 100.00 1 NM_000075.4 DICER1 100.00 1 NM_030621.4 HOXB13 100.00 1 NM_006361.6 NF1 100.00 1 NM_001042492.3 POT1 100.00 1 NM_015450.3 PTCH1 100.00 1 NM_000264.5 RB1 100.00 1 NM_000321.2 RET 100.00 1 NM_020975.6