Familial Tumours Syndromes of the central and peripheral Nervous system eligibility statement: Familial Tumours Syndromes of the central and peripheral Nervous system inclusion criteria (30620) [See separate eligibility criteria for Neurofibromatosis type 1] A. Proband has clinical features diagnostic of Von Hippel Lindau syndrome. Samples to be obtained from proband and any affected family members, OR B. Proband has clinical features diagnostic of Neurofibromatosis type 2, AND >= 1 family member (FDR, SDR) affected with NF2. Samples to be available and obtainable from proband and >= 1 affected family member OR C. Proband has >=2 nonintradermal schwannomas, at least one with histologic confirmation, AND >= 1 family member (FDR, SDR) affected by >= 2 nonintradermal schwannomas. Samples to be available and obtainable from proband and >= 1 affected family member OR D. Proband diagnosed with glioma/meningioma/astrocytoma (aged <60, histologically confirmed)) AND >= 1 family member (FDR, SDR) affected by a brain tumour of the same histology (histologically confirmed). Samples must be available and obtainable from proband and >= 1 affected family member. 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 Tumours Syndromes of the central and peripheral Nervous system exclusion criteria (30620) Prior genetic testing guidance (30620) - 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 Tumours Syndromes of the central and peripheral Nervous system prior genetic testing genes (30620) Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: - NF2, VHL, SMARCB1 as appropriate Closing statement (30620) These requirements will be kept under continual review during the main programme and may be subject to change.
D Gareth Evans (UoM)
Group: GeCIP domain
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)
Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
APC |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
17q11.2 recurrent region (includes NF1) LossISCA-37431-LossRegion |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
LZTR1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MLH1 |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH2 |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH6 |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NF1 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NF2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PMS2 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PTCH1 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PTEN |
0 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SMARCB1 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SMARCE1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SUFU |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TP53 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
VHL |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ALK |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ATM |
1 review |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
MEN1 |
1 review |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
NBN |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PALB2 |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PHOX2B |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
Panel curated.