Neuro-endocrine Tumours- PCC and PGL inclusion criteria - proband is affected by PCC/PGL (age <60) AND >= 1 family member (FDR, SDR, TDR) affected by PCC/PGL (any age) AND sample available from >= 1 affected family member OR - proband is affected by multiple PCC/PGL (first diagnosis age <60) 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. Neuro-endocrine Tumours- PCC and PGL 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. Neuro-endocrine Tumours- PCC and PGL 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: - SDHB, SDHD, RET, VHL, SDHC, SDHAF2, MAX and TMEM127 Closing statement These requirements will be kept under continual review during the main programme and may be subject to change.
Treena Cranston (Oxford)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Katie Snape (South London GMC)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Louise IZATT (GSTT Clinical Genetics Service)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)
Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
FH |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MAX |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MEN1 |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NF1 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PRKAR1A |
4 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
RET |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDHA |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDHAF2 |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDHB |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDHC |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDHD |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TMEM127 |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
VHL |
3 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CDC73 |
2 reviews1 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
CDKN1B |
4 reviews1 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
GDNF |
3 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
KIF1B |
3 reviews1 red |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
MDH2 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PTEN |
2 reviews2 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
TP53 |
2 reviews2 red |
Not set |
Sources
Tags |
25.04.16 Gene panel revised due to expert review and internal discussion, and promoted to version 1.