Familial rhabdomyosarcoma or sarcoma inclusion criteria - Proband is affected by rhabdomyosarcoma or sarcoma - >= 1 family member (FDR, SDR, TDR) affected by rhabdomyosarcoma or sarcoma (any age). Sample should be sought if patient alive Unaffected individuals should not be recruited in this disorder. Recruitment should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs. Familial rhabdomyosarcoma or sarcoma exclusion criteria Prior genetic testing guidance - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. Familial rhabdomyosarcoma or sarcoma prior genetic testing genes Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: - TP53 Closing statement These requirements will be kept under continual review during the main programme and may be subject to change.
Ellen Thomas (Genomics England Curator)
Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
BUB1B |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CDKN1C |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
HRAS |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MLH1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH2 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH6 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NBN |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NF1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PMS2 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
RB1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TP53 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CREBBP |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
DICER1 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
FOXO1 |
1 review1 red |
Other - please specifiy in evaluation comments |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
KRAS |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PAX3 |
1 review1 red |
Other - please specifiy in evaluation comments |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PAX7 |
1 review1 red |
Other - please specifiy in evaluation comments |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
WT1 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
2017-12-21 11:16 Louise Daugherty (Genomics England) promoted panel to 1.0
21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.