Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R211 Inherited polyposis - germline test' and '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 'R211 Inherited polyposis - germline test' and 'R209 Inherited colorectal cancer (with or without polyposis)'.

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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/504/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (15/10/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rachel Robinson (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    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

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

17 Entities

17 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green Green List (high evidence)
APC
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Desmoid disease, hereditary 135290
  • Brain tumor-polyposis syndrome 2 175100
  • Gardner syndrome 175100
  • Adenomatous polyposis coli 175100
Tags
Green Green List (high evidence)
BMPR1A
8 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
  • Juvenile Polyposis Syndrome
  • Polyposis, juvenile intestinal, 174900
  • High Risk Colorectal Cancer
  • juvenile polyposis
Tags
Green Green List (high evidence)
EPCAM
7 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags
Green Green List (high evidence)
MLH1
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 276300 AR
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • Muir-Torre syndrome 158320 AD
Tags
Green Green List (high evidence)
MSH2
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muir-Torre syndrome 158320 AD
  • Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD
  • Mismatch repair cancer syndrome 276300 AR
Tags
Green Green List (high evidence)
MSH6
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 276300 AR
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD
  • Endometrial cancer, familial 608089
Tags
Green Green List (high evidence)
MUTYH
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456
Tags
Green Green List (high evidence)
NTHL1
8 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial adenomatous polyposis 3 616415
Tags
Green Green List (high evidence)
PMS2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4 614337
  • Mismatch repair cancer syndrome 276300 AR
Tags
Green Green List (high evidence)
POLD1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer, susceptibility to, 10} 612591
Tags
Green Green List (high evidence)
POLE
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer, susceptibility to, 12} 615083 AD
Tags
Green Green List (high evidence)
PTEN
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480 AD
  • Cowden syndrome 1 158350
  • PTEN hamartoma tumor syndrome
Tags
Green Green List (high evidence)
SMAD4
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
STK11
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peutz-Jeghers syndrome 175200
Tags
Amber Amber List (moderate evidence)
GREM1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
  • Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
  • Polyposis Syndrome, Hereditary Mixed, 1
  • Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
  • {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
Tags
Amber Amber List (moderate evidence)
MSH3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
RNF43
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags

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