Description
Neurofibromatosis Type 1 eligibility statement:

Neurofibromatosis Type 1 inclusion criteria (38878)
A.	Proband with a clinically confirmed diagnosis of Neurofibromatosis type 1, OR
B.	Proband with multiple café-au-lait patches but no non-pigmentary features

Where the NF1 gene has not been tested before recruitment, participants should be recruited initially as singletons. In families where analysis as a singleton does not lead to identification of the underlying causative mutations, recruitment of additional affected family members is encouraged.

Neurofibromatosis Type 1 exclusion criteria (38878)

Prior genetic testing guidance (38878)
- 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.

Neurofibromatosis Type 1 prior genetic testing genes (38878)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
- In case A above (clinically confirmed diagnosis of NF1) prior testing as below is strongly recommended to allow appropriate management.
- In case B above (no non-pigmentary features) testing of the following genes should be considered but is not required prior to recruitment:
NF1

Closing statement (38878)
These requirements will be kept under continual review during the main programme and may be subject to change.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Helen Lindsay (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Mark Greenslade (Bristol Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

31 Entities

30 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
31 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)
BRAF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Tags
Green Green List (high evidence)
BRCA2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, 612555
  • Fanconi anemia, complementation group D1, 605724
  • Prostate cancer, 176807
  • {Breast cancer, male, susceptibility to}, 114480
  • Wilms tumor, 194070
  • {Medulloblastoma}, 155255
  • {Glioblastoma 3}, 613029
  • Pancreatic cancer, 613347
  • {Glioblastoma 3},
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
BRIP1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Breast cancer, early-onset, 114480
  • Fanconi anemia, complementation group J, 609054
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCB
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group C, 227645
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCD2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCE
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCF
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCG
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group G, 614082
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCI
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCL
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
GNAS
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • McCune-Albright syndrome, 174800
  • Pseudohypoparathyroidism Ia
Tags
  • mosaicism
Green Green List (high evidence)
KITLG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperpigmentation with or without hypopigmentation, 145250
Tags
Green Green List (high evidence)
MLH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
MSH6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
NF1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis, familial spinal
  • Familial Spinal Neurofibromatosis
  • Neurofibromatosis, type 1
  • Neurofibromatosis-Noonan syndrome
  • Watson syndrome, 162200
Tags
Green Green List (high evidence)
PALB2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
PMS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • UKGTN
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Tags
Green Green List (high evidence)
RAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Tags
Green Green List (high evidence)
SLX4
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group P, 613951
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
SPRED1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Legius syndrome, 611431
Tags
Amber Amber List (moderate evidence)
POLA1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220
  • XLPDR
Tags
  • non-coding-known-pathogenic
Amber Amber List (moderate evidence)
RAD51C
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group O, 613390
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
  • watchlist
Red Red List (low evidence)
ERCC4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • XFE progeroid syndrome, 610965
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Fanconi Anaemia
Tags
Red Red List (low evidence)
FANCM
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group M, 614087
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Red Red List (low evidence)
MAP2K1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Tags
Red Red List (low evidence)
UBE2T
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group T, 616435
Tags

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