Description
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.

2 reviewers

  • D Gareth Evans (UoM)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

22 Entities

14 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • dysmorphic features, cardiac anomalies and mental retardation
  • 613675
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • NF1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
Tags
Green Green List (high evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
LZTR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Schwannomatosis-2, susceptibility to}, 615670
  • (originally on Familial schwannomatosis gene panel)
  • familial schwannomatosis
Tags
Green Green List (high evidence)
MLH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
MSH2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
MSH6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
NF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis, type 1, 162200
  • Leukemia, juvenile myelomonocytic, 607785
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, Type I
  • (originally on Familial schwannomatosis gene panel)
Tags
Green Green List (high evidence)
NF2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis, Type 2
  • Brain, CNS, and PNS Cancer
  • Neurofibromatosis, Type II
  • Neurofibromatosis, type 2, 101000
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • (originally on Familial schwannomatosis gene panel)
Tags
Green Green List (high evidence)
PMS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
PTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
PTEN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cowden syndrome 1, 158350
  • Lhermitte-Duclos syndrome, 158350
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • {Meningioma}, 607174
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 76950
  • Prostate cancer, somatic}, 176807
  • Thyroid carcinoma, follicular, somatic, 188470
  • Malignant melanoma, somatic, 155600
  • Endometrial carcinoma, somatic, 608089
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • {Prostate cancer, somatic}, 176807
  • Cowden Syndrome
  • Cowden Disease
Tags
Green Green List (high evidence)
SMARCB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Schwannomatosis
  • (originally on Familial schwannomatosis gene panel)
Tags
Green Green List (high evidence)
SMARCE1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • familial spinal and cranial meningiomas
Tags
Green Green List (high evidence)
SUFU
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
TP53
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Green Green List (high evidence)
VHL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Von Hippel-Lindau Syndrome
  • von Hippel-Lindau syndrome, 193300
  • Renal cell carcinoma, somatic, 144700
  • Pheochromocytoma, 171300
  • Hemangioblastoma, cerebellar, somatic
  • Erythrocytosis, familial, 2, 263400
Tags
Red Red List (low evidence)
ALK
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Brain, CNS, and PNS Cancer
  • familial neuroblastoma
Tags
Red Red List (low evidence)
ATM
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Red Red List (low evidence)
MEN1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Red Red List (low evidence)
NBN
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Red Red List (low evidence)
PALB2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Red Red List (low evidence)
PHOX2B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Brain, CNS, and PNS Cancer
  • susceptibility to neuroblastoma
Tags

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