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.
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
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
APC |
8 reviews5 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
BMPR1A |
8 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
EPCAM |
7 reviews3 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MLH1 |
7 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH2 |
7 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH6 |
6 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MUTYH |
6 reviews4 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
NTHL1 |
8 reviews3 green 1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PMS2 |
6 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
POLD1 |
6 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
POLE |
6 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PTEN |
6 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SMAD4 |
6 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
STK11 |
7 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
GREM1 |
6 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
MSH3 |
3 reviews1 green 1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Tags |
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| Amber List (moderate evidence) |
RNF43 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Tags |
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2019-10-15 16:04 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
The content of this panel (version 0.56) was signed off under NHS Genomic Medicine Service governance on (15/10/2019). The panel was promoted to the next major version (version 1.0) as a result of this.