Multiple endocrine tumours inclusion criteria - Proband is affected by endocrine tumour (age <60) - >=1 additional endocrine tumour (any age) in patient or family member (FDR, SDR, TDR) (age <60). Sample should be sought from affected family members if alive [endocrine tumours: parathyroid hyperplasia, pituitary adenoma, GIT neuroendocrine tumour, carcinoid tumours, adrenocortical tumours, medullary thyroid carcinoma, phaeochromocytoma] 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. Multiple endocrine tumours 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. Multiple endocrine tumours 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: - MEN1 (MEN1-like spectrum) - MEN1 and AIP (if pituitary tumours only) - RET (MEN2-like spectrum) Closing statement These requirements will be kept under continual review during the main programme and may be subject to change.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Sian Ellard (University of Exeter Medical School)
Group: other
Workplace: other
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) |
AIP |
4 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CDC73 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CDKN1B |
4 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MAX |
5 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MEN1 |
4 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PRKAR1A |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RET |
4 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SDHAF2 |
5 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 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SDHD |
5 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
TMEM127 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
TP53 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
VHL |
5 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
NTRK1 |
4 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
PTEN |
3 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Reviewed by 4 expert reviewers plus 2 internal curators; panel ready for version 1.