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  2. Inherited MMR deficiency (Lynch syndrome)
The latest signed off version for the GMS is v1.2. The current version, shown here, may differ from the signed-off version.

Inherited MMR deficiency (Lynch syndrome) (Version 1.13)

Level 2: Inherited cancer

Relevant disorders: R210
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v1.2 (4 Mar 2020)
Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R210 Inherited MMR deficiency (Lynch syndrome)' 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 'R210 Inherited MMR deficiency (Lynch syndrome)'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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.
Panel Activity

4 reviewers

  • 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

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green List (high evidence)
EPCAM
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
  • Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196
Tags
Green List (high evidence)
MLH1
4 reviews
3 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
  • Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249
  • Lynch syndrome 1, MONDO:0007356
Tags
Green List (high evidence)
MSH2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435
  • Lynch syndrome 1, MONDO:0007356
Tags
Green List (high evidence)
MSH6
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350
  • Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710
  • Lynch syndrome 1, MONDO:0007356
Tags
Green List (high evidence)
PMS2
4 reviews
3 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
  • Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699
  • Lynch syndrome 1, MONDO:0007356
Tags

Major version comments

  • 2019-08-16 09:52 Ivone Leong (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.11) was signed off under NHS Genomic Medicine Service governance on (16/08/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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