Description
This panel is used for clinical indications in the NHS Genomic Medicine Service. It is also used for participants in the Cancer programme of the 100,000 Genomes Project.

Indications for application of clinical indication 'R359 Childhood solid tumours' in the Genomic Medicine Service:
-Analysis of germline findings for WGS for tumours arising in individuals age <25 years.

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-This panel will be applied to all individuals age <25 years with solid (non-haematological) tumours.
-Three broad panels spanning cancer susceptibility genes will also be applied for Tier 3 findings. These are:
Tumour predisposition - childhood onset: https://panelapp.genomicsengland.co.uk/panels/243/
Adult solid tumours cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/245/
Haematological malignancies cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/59/

Notes relating to application of this panel for germline findings for WGS:
-Only genes with strong evidence of association with cancer are included as Green on this panel for genetically heterogeneous conditions such as Fanconi anaemia (FA), Dyskeratosis congenita (DC), RASopathies and Xeroderma pigmentosum (XP).
-This panel has been designed for detection of variants in genes that typically present in childhood. Nevertheless, some genes associated with predisposition to cancers of childhood onset will also cause predisposition tumours with onset in adulthood.

General Information:
-Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R359 Childhood solid tumours', and in the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

-The National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts.

-The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for involvement of a gene in cancer susceptibility, this requires consideration of technical aspects of the assay(s) available.

-Please contact your Genomic Laboratory Hub for information regarding specific queries. More information about Genomic Laboratory Hubs can be found here: https://www.england.nhs.uk/genomics/genomic-laboratory-hubs/

-This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Eik Haraldsdottir (Genomics England)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Shazia Mahamdallie (Great Ormond Street)

    Group: NHS Genomic Medicine Centre
    Workplace: Research lab

114 Entities

107 reviewed, 80 green

List Entity Reviews Mode of inheritance Details
114 Entitiess
Green Green List (high evidence)
ALK
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • bilateral neuroblastoma
  • {Neuroblastoma, susceptibility to, 3}
  • Familial neuroblastoma
Tags
Green Green List (high evidence)
APC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Adenomatous Polyposis
  • 175100
Tags
Green Green List (high evidence)
ATM
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ataxia Telangiectasia
  • 208900
Tags
Green Green List (high evidence)
BLM
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bloom Syndrome
  • 210900
Tags
Green Green List (high evidence)
BMPR1A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Hereditary Mixed Polyposis Syndrome 2, 610069
  • Hereditary Mixed Polyposis Syndrome
Tags
Green Green List (high evidence)
BRCA1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
BRCA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wilms tumor, 194070
  • Fanconi Anaemia
  • {Breast cancer, male, susceptibility to}, 114480
  • Prostate cancer, 176807
  • {Medulloblastoma}, 155255
  • {Glioblastoma 3}, 613029
  • Fanconi Anemia
  • Hereditary Breast and Ovarian Cancer
  • Fanconi anemia, complementation group D1, 605724
  • {Breast-ovarian cancer, familial, 2}, 612555
  • Pancreatic cancer, 613347
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group J, 609054
  • Fanconi anemia, complementation group J, 609054
  • Fanconi Anaemia
  • ?Breast cancer, early-onset, 114480
  • Fanconi Anemia
Tags
Green Green List (high evidence)
BUB1B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 257300
  • 257300
Tags
Green Green List (high evidence)
CBL
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 613563
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Tags
Green Green List (high evidence)
CDC73
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 145001
Tags
Green Green List (high evidence)
CDKN1C
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Wilms Tumor
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732
  • Silver-Russell Syndrome
  • Beckwith-Wiedemann syndrome
Tags
Green Green List (high evidence)
CTR9
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Wilms tumor
Tags
Green Green List (high evidence)
DDB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
DICER1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Multinodular Goiter
  • DICER1 syndrome
  • 601200
Tags
Green Green List (high evidence)
DIS3L2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Perlman syndrome, 267000
Tags
Green Green List (high evidence)
ERCC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group D, 278730
Tags
Green Green List (high evidence)
ERCC3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
Tags
Green Green List (high evidence)
ERCC4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Fanconi anemia, complementation group Q, 615272
  • XFE progeroid syndrome, 610965
  • Xeroderma pigmentosum, group F, 278760
Tags
Green Green List (high evidence)
ERCC5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group G, 278780
Tags
Green Green List (high evidence)
EZH2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Weaver syndrome, 277590
  • Weaver Syndrome
Tags
Green Green List (high evidence)
FANCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia, Complementation Group A
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCB
3 reviews
2 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 List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia, Complementation Group C
  • Fanconi Anemia Type B
  • Fanconi Anemia, X-Linked
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group C, 227645
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCF
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group G, 614082
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCI
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anaemia
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
Tags
Green Green List (high evidence)
FANCL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
Green Green List (high evidence)
GPC3
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wilms tumor, somatic, 194070
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
  • Wilms tumor, somatic, 194070
Tags
Green Green List (high evidence)
HRAS
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Costello syndrome
  • Costello syndrome, 218040
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Tags
Green Green List (high evidence)
KRAS
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 3 609942
  • Cardiofaciocutaneous syndrome 2 615278
Tags
Green Green List (high evidence)
MEN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple Endocrine Neoplasia
  • Multiple endocrine neoplasia 1, 131100
Tags
Green Green List (high evidence)
MLH1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome
Tags
Green Green List (high evidence)
MSH2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome
Tags
Green Green List (high evidence)
MSH6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome
Tags
Green Green List (high evidence)
NBN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nijmegen Breakage Syndrome
  • 251260
Tags
Green Green List (high evidence)
NF1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis-Noonan syndrome, 601321
  • Leukemia, juvenile myelomonocytic, 607785
  • Neurofibromatosis, Type I
  • Neurofibromatosis-Noonan syndrome 601321
  • Watson syndrome, 193520
  • Neurofibromatosis, type 1, 162200
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis, Type 1
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, type 1 162200
Tags
Green Green List (high evidence)
NF2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • Neurofibromatosis, Type 2
  • Neurofibromatosis, Type II
  • loss of heterozygosity Neurofibromatosis, type 2, 101000
  • Acoustic neuroma
Tags
Green Green List (high evidence)
NSD1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650
  • Sotos Syndrome
  • Weaver Syndrome
  • Sotos syndrome 1, 117550
Tags
Green Green List (high evidence)
PALB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anaemia
  • Fanconi anemia, complementation group N, 610832
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • {Breast cancer, susceptibility to}, 114480
Tags
Green Green List (high evidence)
PDGFRA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Gastrointestinal stromal tumour
  • Gastrointestinal stromal tumor, somatic 606764
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic, 606764
Tags
Green Green List (high evidence)
PDGFRB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile myofibromatosis
  • Myofibromatosis, infantile, 1 228550
  • Myofibromatosis, infantile, 1 228550
Tags
Green Green List (high evidence)
PHOX2B
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Familial Clustering of Neuroblastoma
Tags
Green Green List (high evidence)
PMS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome
Tags
Green Green List (high evidence)
POLH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, variant type, 278750
Tags
Green Green List (high evidence)
PRKAR1A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Primary Pigmented Nodular Adrenocortical disease
  • Carney Complex
Tags
Green Green List (high evidence)
PTCH1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 109400
  • Gorlin syndrome
Tags
Green Green List (high evidence)
PTEN
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • VATER association with macrocephaly and ventriculomegaly, 76950
  • {Prostate cancer, somatic}, 176807
  • {Meningioma}, 607174
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • Prostate cancer, somatic}, 176807
  • Cowden Disease
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • Malignant melanoma, somatic, 155600
  • Cowden syndrome 1, 158350
  • Endometrial carcinoma, somatic, 608089
  • Cowden Syndrome
  • Thyroid carcinoma, follicular, somatic, 188470
  • Cowden syndrome
  • Lhermitte-Duclos syndrome, 158350
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 276950
Tags
Green Green List (high evidence)
PTPN11
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome
  • 163950
Tags
Green Green List (high evidence)
RAF1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • LEOPARD syndrome 2 611554
  • Noonan syndrome 5 611553
Tags
Green Green List (high evidence)
RB1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinoblastoma, trilateral
  • Retinoblastoma
Tags
Green Green List (high evidence)
RECQL4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rothmund Thomson Syndrome
  • 268400
Tags
Green Green List (high evidence)
REST
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 616806
  • {Wilms tumor 6, susceptibility to} 616806
Tags
Green Green List (high evidence)
RET
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple Endocrine Neoplasia
  • MEN2B 162300
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • 615190 DC type 4 and 5
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • 615190 Dyskeratosis congenita
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Tags
Green Green List (high evidence)
SHOC2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SLX4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anaemia
  • Fanconi anemia, complementation group P, 613951
  • Fanconi Anemia
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Juvenile Polyposis
  • Hereditary Hemorrhagic Telangiectasia
Tags
Green Green List (high evidence)
SMARCA4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 613325
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Tags
Green Green List (high evidence)
SMARCB1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Atypical rhabdoid tumor predisposition
  • 609322
Tags
Green Green List (high evidence)
SOS1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 4 610733
Tags
Green Green List (high evidence)
STK11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peutz Jeghers syndrome
  • Peutz-Jeghers syndrome, 175200
Tags
Green Green List (high evidence)
SUFU
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Medulloblastoma, desmoplastic, 155255
  • Basal cell nevus syndrome, 109400
  • SUFU associated Medulloblastoma
Tags
Green Green List (high evidence)
TERC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 1, 127550
Tags
Green Green List (high evidence)
TERT
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
Tags
Green Green List (high evidence)
TP53
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adrenocortical carcinoma
  • Li Fraumeni Syndrome
Tags
Green Green List (high evidence)
TRIM28
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Wilms tumor
  • Wilms tumour
Tags
Green Green List (high evidence)
TRIM37
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mulibrey nanism 253250
  • 253250
Tags
Green Green List (high evidence)
TRIP13
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3 617598
  • Mosaic variegated aneuploidy syndrome 3 617598
Tags
Green Green List (high evidence)
TSC1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 191100
  • Tuberous sclerosis type 1
Tags
Green Green List (high evidence)
TSC2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 613254
  • Tuberous sclerosis type 2
Tags
Green Green List (high evidence)
VHL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • von Hippel-Lindau syndrome, 193300
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, 613988
Tags
Green Green List (high evidence)
WRN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Werner Syndrome
  • Werner syndrome, 277700
Tags
Green Green List (high evidence)
WT1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert List
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wagner Syndrome
  • Frasier syndrome, 136680
  • Nephrotic syndrome, type 4, 256370
  • Denys-Drash syndrome, 194080
  • Familial Wilms tumor
  • Wilms Tumor 1
  • Wilms Tumor
  • Wilms tumour
  • Meacham syndrome, 608978
  • Mesothelioma, somatic, 156240
  • Denys-Drash Syndrome
  • Wilms tumor, type 1, 194070
Tags
Green Green List (high evidence)
XPA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
Tags
Green Green List (high evidence)
XPC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group C, 278720
Tags
Amber Amber List (moderate evidence)
ACD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • 616553 ?Dyskeratosis congenita 6 and 7
Tags
Amber Amber List (moderate evidence)
BRAF
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 7 613706
  • Cardiofaciocutaneous syndrome 115150
  • LEOPARD syndrome 3 613707
Tags
Amber Amber List (moderate evidence)
CTC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis Congenita, Recessive
  • 612199 Coats plus syndrome
Tags
Amber Amber List (moderate evidence)
DKC1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6, 616353
Tags
Amber Amber List (moderate evidence)
ERCC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Xeroderma Pigmentosa
  • Cerebrooculofacioskeletal syndrome 4, 610758
Tags
Amber Amber List (moderate evidence)
LZTR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 10 616564
  • Schwannomatosis-2, susceptibility to 615670
Tags
Amber Amber List (moderate evidence)
MAP2K1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan syndrome
Tags
Amber Amber List (moderate evidence)
MAP2K2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous syndrome 4 615280
Tags
Amber Amber List (moderate evidence)
PARN
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • 616353 Dyskeratosis congenita, autosomal recessive 6
  • 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Tags
Amber Amber List (moderate evidence)
PPP1CB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
Tags
Amber Amber List (moderate evidence)
RAD51C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi anemia, complementation group O, 613390
  • Fanconi Anaemia
  • Fanconi Anemia
Tags
  • watchlist
Amber Amber List (moderate evidence)
RIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 8 615355
Tags
Amber Amber List (moderate evidence)
SOS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 9 616559
Tags
Amber Amber List (moderate evidence)
TINF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, 613990
Tags
Red Red List (low evidence)
AKT1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • IGH Breast cancer, somatic, 114480
  • Colorectal cancer, somatic, 114500
  • Ovarian cancer, somatic, 167000
  • {Schizophrenia, susceptibility to}, 181500 (2)
  • Proteus syndrome, somatic, 176920
  • Cowden syndrome 6, 615109
Tags
Red Red List (low evidence)
FANCM
1 review
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)
H19
3 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Russell-Silver Syndrome
  • Silver-Russell Syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
IGF2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
Red Red List (low evidence)
KCNQ1OT1
4 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
KLLN
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 4, 615107
Tags
Red Red List (low evidence)
MTAP
1 review
1 green
Not set
Sources
  • Expert List
Tags
Red Red List (low evidence)
NFIX
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marshall-Smith syndrome, 602535
  • Sotos syndrome 2, 614753
Tags
Red Red List (low evidence)
NHP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • NHS GMS
Phenotypes
  • Dyskeratosis Congenita
Tags
Red Red List (low evidence)
NOP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • NHS GMS
Phenotypes
  • Dyskeratosis Congenita
Tags
Red Red List (low evidence)
NOTCH3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Infantile myofibromatosis
Tags
Red Red List (low evidence)
NRAS
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • NHS GMS
Phenotypes
  • Cardio-Facio-cutanenous syndrome
  • Noonan syndrome 6 613224
  • CFC Syndrome
Tags
Red Red List (low evidence)
PAX6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Morning glory disc anomaly, 120430
  • Aniridia, 106210
  • Cataract with late-onset corneal dystrohpy, 106210
  • Coloboma of optic nerve, 120430
  • Coloboma, ocular, 120200
  • Foveal hypoplasia 1, 136520
  • Gillespie syndrome, 206700
  • Keratitis, 148190
  • Optic nerve hypoplasia, 165550
  • Peters anomaly, 604229
  • Wagner Syndrome
  • Aniridia
  • PAX6-related Disorders
  • Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Tags
Red Red List (low evidence)
PIK3CA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • 1 report of several families in PTEN-negative Cowden
Tags
Red Red List (low evidence)
SDHB
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 4, 115310
  • Pheochromocytoma, 171300
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 2, 612359
  • Gastrointestinal stromal tumor, 606764
Tags
Red Red List (low evidence)
SDHD
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Tags
Red Red List (low evidence)
SPRED1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
Phenotypes
  • Legius syndrome 611431
Tags
Red Red List (low evidence)
SQSTM1
1 review
1 green
Not set
Sources
  • Expert List
Tags
Red Red List (low evidence)
T
2 reviews
1 green
Not set
Sources
  • Expert List
  • Expert Review Red
Tags
  • new-gene-name
Red Red List (low evidence)
TNFRSF11A
1 review
1 green
Not set
Sources
  • Expert List
Tags

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