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 (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/504/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (04/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. 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.  The content that is agreed for the GMS panels will be reflected in an updated version number.

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.

11 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

  • Arina Puzriakova (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, OMIM:135290
  • Brain tumor-polyposis syndrome 2, OMIM:175100
  • Gardner syndrome, OMIM:175100
  • Adenomatous polyposis coli, OMIM:175100
  • Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
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
  • Polyposis syndrome, hereditary mixed, 2, OMIM:610069
  • Polyposis, juvenile intestinal, OMIM:174900
Tags
Green Green List (high evidence)
EPCAM
8 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
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
  • Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310
  • Mismatch repair cancer syndrome, OMIM:276300
  • Muir-Torre syndrome, OMIM:158320
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, OMIM:158320
  • Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435
  • Mismatch repair cancer syndrome, OMIM:276300
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, OMIM:276300
  • Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350
  • Endometrial cancer, familial, OMIM:608089
Tags
Green Green List (high evidence)
MUTYH
7 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adenomas, multiple colorectal, OMIM: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, OMIM:616415
  • NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
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, OMIM:614337
  • Mismatch repair cancer syndrome 4, OMIM:619101
Tags
Green Green List (high evidence)
POLD1
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer, susceptibility to, 10}, OMIM:612591
  • Colorectal cancer, susceptibility to, 10, MONDO:0012953
Tags
Green Green List (high evidence)
POLE
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer, susceptibility to, 12}, OMIM:615083
Tags
Green Green List (high evidence)
PTEN
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cowden syndrome 1, OMIM:158350
  • Lhermitte-Duclos syndrome, OMIM:158350
  • Cowden syndrome 1, MONDO:0008021
Tags
Green Green List (high evidence)
SMAD4
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polyposis, juvenile intestinal, OMIM:174900
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM: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, OMIM:175200
  • Peutz-Jeghers syndrome, MONDO:0008280
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
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Familial adenomatous polyposis 4, OMIM:617100
Tags
Amber Amber List (moderate evidence)
RNF43
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sessile serrated polyposis cancer syndrome, OMIM:617108
Tags

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