Description
This is a combined panel for GI tract tumour syndrome

This was 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)

See individual eligibility statements for these disorders here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/rare-disease-eligibility-criteria/

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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