Description
This panel is used for clinical indication 'R209 Inherited colorectal cancer (with or without polyposis)' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R209 Inherited colorectal cancer (with or without polyposis)'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This is a combined panel for GI tract tumour syndrome created on 11th May 2017 by combining the following individual gene panels together:
- Familial colon cancer (version 1.5)
- Multiple bowel polyps (version 1.9)
- Peutz-Jeghers syndrome (version 0.2)

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ian Tomlinson (University of Oxford)

    Group: GeCIP domain
    Workplace: Research lab

  • Ian Frayling (Cardiff University)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

29 Entities

29 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
29 Entitiess
Green Green List (high evidence)
APC
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Adenomatous polyposis coli 175100
  • Brain tumor-polyposis syndrome 2 175100
  • Gardner syndrome 175100
  • Desmoid disease, hereditary 135290
Tags
Green Green List (high evidence)
BMPR1A
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • juvenile polyposis
  • Polyposis, juvenile intestinal, 174900
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
  • Juvenile Polyposis Syndrome
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
Tags
Green Green List (high evidence)
MLH1
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • Mismatch repair cancer syndrome 276300 AR
  • Muir-Torre syndrome 158320 AD
Tags
Green Green List (high evidence)
MSH2
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD
  • Mismatch repair cancer syndrome 276300 AR
  • Muir-Torre syndrome 158320 AD
Tags
Green Green List (high evidence)
MSH6
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD
  • Endometrial cancer, familial 608089
  • Mismatch repair cancer syndrome 276300 AR
Tags
Green Green List (high evidence)
MUTYH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456
Tags
Green Green List (high evidence)
NTHL1
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • Research
Phenotypes
  • Familial adenomatous polyposis 3 616415
Tags
Green Green List (high evidence)
PMS2
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4 614337
  • Mismatch repair cancer syndrome 276300 AR
Tags
Green Green List (high evidence)
POLD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • {Colorectal cancer, susceptibility to, 10} 612591
Tags
Green Green List (high evidence)
POLE
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • {Colorectal cancer, susceptibility to, 12} 615083 AD
Tags
Green Green List (high evidence)
PTEN
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480 AD
  • Cowden syndrome 1 158350
Tags
Green Green List (high evidence)
SMAD4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
STK11
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
Phenotypes
  • Peutz-Jeghers syndrome 175200
Tags
Amber Amber List (moderate evidence)
CDH1
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Gastrointestinal and Colorectal Cancer
Tags
Red Red List (low evidence)
ADM
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
BRCA1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
Tags
Red Red List (low evidence)
BRCA2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
Tags
Red Red List (low evidence)
CDKN2A
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
Tags
Red Red List (low evidence)
CHEK2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Colorectal cancer
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags
Red Red List (low evidence)
ENG
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Juvenile Polyposis
Tags
Red Red List (low evidence)
EPCAM
4 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags
  • structural-variant
Red Red List (low evidence)
FOXO3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes
Tags
Red Red List (low evidence)
GREM1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
  • Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
  • Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
  • Polyposis Syndrome, Hereditary Mixed, 1
  • Hereditary Mixed Polyposis Syndrome
Tags
  • duplication
  • structural-variant
Red Red List (low evidence)
MSH3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Research
Tags
Red Red List (low evidence)
PTPN12
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colon cancer
Tags
Red Red List (low evidence)
SLC26A3
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Colon cancer (1)
  • Chloride diarrhea, congenital, Finnish type, 214700
Tags
Red Red List (low evidence)
SMAD9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Hamartomatous Polyposis
  • Gastrointestinal Ganglioneuromas
Tags
Red Red List (low evidence)
SRC
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Colon cancer, advanced
Tags
Red Red List (low evidence)
TP53
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags

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