This panel is used for clinical indications in the NHS Genomic Medicine Service. It is also used for participants in the Cancer programme of the 100,000 Genomes Project. Further information on the testing criteria and any overlapping clinical indications can be found within the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/. 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). General Information: -The National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts. -Please contact your Genomic Laboratory Hub for information regarding specific queries. More information about Genomic Laboratory Hubs can be found here: https://www.england.nhs.uk/genomics/genomic-laboratory-hubs/ -This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the Cancer programme eligibility criteria refer to: https://www.genomicsengland.co.uk/cancer-programme/eligibility/
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Clare Turnbull (Queen Mary University London)
Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Catherine Snow (Genomics England)
Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
BRCA1 |
3 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
BRCA2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
BRIP1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MLH1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH6 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RAD51C |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RAD51D |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
PMS2 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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2023-03-22 16:07 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.
2018-09-07 13:38 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.