Description
Version 1.93 of this panel was retired on 13th March 2018 by EMcDonagh, and the Adult solid tumours for rare disease gene panel (code 391) will be applied.

Multiple tumour eligibility statement:

Multiple tumour inclusion criteria (30688)
- proband is affected with (a) 2 or more primary malignancies (both diagnosed aged <50) OR (b) 3 or more primary malignancies (all diagnosed aged <60) 
- Note: Non-melanoma skin cancers are not included in this definition of primary malignancy  
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 tumours exclusion criteria (30688)

Prior genetic testing guidance (30688)
- 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 Tumour prior genetic testing genes (30688)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:

 - any genetic testing for which patient is eligible by local guidance on account of personal/family history.

Closing statement (30688)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

4 reviewers

  • Ellen McDonagh (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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

129 Entities

117 reviewed, 82 green

List Entity Reviews Mode of inheritance Details
129 Entitiess
Green Green List (high evidence)
AIP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Pituitary adenoma
  • Multiple endocrine tumours
Tags
Green Green List (high evidence)
ALK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Neuroblastoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
APC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Adenomatous Polyposis (FAP)
  • Gardner Syndrome
  • Turcot Syndrome
  • Colorectal cancer, adenoma
  • Familial colon cancer
  • Multiple bowel polyps
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
ATM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Ataxia-Telangiectasia (biallelic mutations)
  • Lymphoid hematological malignancy (leukemia, lymphoma) (biallelic mutations)
  • Breast cancer (monoallelic mutations)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
BAP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Tumor predisposition syndrome, 614327
  • Tumor Predisposition Syndrome
  • Melanoma (cutaneous, uveal)
  • Mesothelioma
  • Meningioma
  • Lung cancer (adenocarcinoma)
Tags
Green Green List (high evidence)
BLM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Bloom Syndrome
  • Lymphoid hematological malignancy
  • Myeloid hematological malignancy
  • Squamous cell carcinoma
  • Gastrointestinal cancers
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
BMPR1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Juvenile Polyposis Syndrome
  • Colorectal cancer, hamartoma
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
BRCA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Breast cancer
  • Ovarian cancer
  • Familial breast cancer
Tags
Green Green List (high evidence)
BRCA2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (D1) (biallelic mutations)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations)
  • Medulloblastoma (biallelic mutations)
  • Wilms tumor (biallelic mutations)
  • Breast cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Prostate cancer (monoallelic mutations)
  • Pancreatic cancer (monoallelic mutations)
  • Familial breast cancer
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
BRIP1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (J) (biallelic mutations)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract) (biallelic mutations)
  • Breast cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
BUB1B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Mosaic Variegated Aneuploidy Syndrome Wilms Tumor
  • Rhabdomyosarcoma
  • Myeloid hematological malignancy
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
CBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
CDC73
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Hyperparathyroidism-Jaw Tumor Syndrome
  • Parathyroid cancer, adenoma
  • Ossifying fibroma (bone)
  • Multiple endocrine tumours
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
  • Parathyroid Cancer
Tags
Green Green List (high evidence)
CDH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Hereditary Diffuse Gastric Cancer
  • Breast cancer (lobular)
  • Gastric cancer (diffuse)
  • Familial breast cancer
Tags
Green Green List (high evidence)
CDK4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Melanoma
  • Malignant Melanoma
Tags
Green Green List (high evidence)
CDKN1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Multiple endocrine tumours
Tags
Green Green List (high evidence)
CDKN1C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Embryonal tumors
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
CDKN2A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Melanoma(p16 and p14ARF)
  • Pancreatic cancer (p16 only)
  • Astrocytoma (p14ARF only)
  • Malignant Melanoma
Tags
Green Green List (high evidence)
DICER1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • DICER1 Syndrome
  • Pleuropulmonary blastoma
  • Cystic nephroma
  • Ovarian sex cord tumor
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
DIS3L2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Perlman Syndrome
  • Wilms tumor
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
ERCC4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma Pigmentosum (F)
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
EZH2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Weaver Syndrome
  • Lymphoid hematological malignancies (lymphoma, lymphoblastic leukemia)
  • neuroblastoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (A)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCB
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (B)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia ( C )
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCD2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (D2)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCE
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (E)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (F)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (G)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCI
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (I)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FANCL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (L)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
FH
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
  • Renal cell cancer
  • Leiomyosarcoma (uterus)
  • Leiomyomata (cutaneous, uterus)
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
FLCN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Birt-Hogg-Dube Syndrome
  • Renal cell cancer, oncocytoma
Tags
Green Green List (high evidence)
GPC3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Simpson-Golabi-Behmel Syndrome
  • Wilms tumor
  • Hepatoblastoma
  • hepatocellular carcinoma
  • Neuroblastoma
  • Gonadoblastoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
HRAS
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Costello Syndrome
  • Rhabdomyosarcoma
  • Neuroblastoma
  • Transitional cell carcinoma (bladder)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
LZTR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Familial Tumours Syndromes of the central & peripheral Nervous system
Tags
Green Green List (high evidence)
MAX
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Paraganglioma-Pheochromocytoma Syndrome
  • Paraganglioma
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
MEN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Multiple Endocrine Neoplasia Type 1
  • Parathyroid adenoma
  • Pituitary adenoma
  • Neuroendocrine tumor (gastro-entero-pancreatic tract)
  • Carcinoid tumor
  • Adrenocortical carcinoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
  • Parathyroid Cancer
Tags
Green Green List (high evidence)
MET
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Renal cell cancer (papillary carcinoma)
Tags
Green Green List (high evidence)
MLH1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • MMR deficiency syndrome (biallelic mutations)
  • Lynch Syndrome (monoallelic mutations)
  • Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations)
  • Brain tumors (biallelic mutations)
  • Hematological malignancy (biallelic mutations)
  • Embryonal tumors (biallelic mutations)
  • Colorectal cancer (monoallelic mutations)
  • Endometrial cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Familial colon cancer
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Genodermatoses with malignancies
  • Multiple bowel polyps
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
MSH2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • MMR deficiency syndrome (biallelic mutations)
  • Lynch Syndrome (monoallelic mutations)
  • Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations)
  • Brain tumors (biallelic mutations)
  • Hematological malignancy (biallelic mutations)
  • Embryonal tumors (biallelic mutations)
  • Colorectal cancer (monoallelic mutations)
  • Endometrial cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Sebaceous adenoma, carcinoma, epithelioma (monoallelic mutations)
  • Familial colon cancer
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Genodermatoses with malignancies
  • Multiple bowel polyps
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
MSH6
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • MMR deficiency syndrome (biallelic mutations)
  • Lynch Syndrome (monoallelic mutations)
  • Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations)
  • Brain tumors (biallelic mutations)
  • Hematological malignancy (biallelic mutations)
  • Embryonal tumors (biallelic mutations)
  • Colorectal cancer (monoallelic mutations)
  • Endometrial cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Familial colon cancer
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Genodermatoses with malignancies
  • Multiple bowel polyps
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
MUTYH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Colorectal cancer, adenoma
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
NBN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Nijmegen Breakage Syndrome Lymphoid hematological malignancy
  • Medulloblastoma
  • Glioma
  • Rhabdomyosarcoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
NF1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Neurofibromatosis Type 1
  • Glioma
  • Malignant peripheral nerve sheath tumor
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Neuro-endocrine Tumours- PCC and PGL
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
NF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Neurofibromatosis Type 2Vestibular schwannoma
  • Meningioma
  • Ependymoma
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
NSD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Sotos Syndrome
  • Neuroblastoma
  • Presacral ganglioma
  • Sacrococcygeal teratoma
  • Lymphoid hematological malignancy (leukemia)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
NTHL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
PALB2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (N) (biallelic mutations)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations)
  • Medulloblastoma (biallelic mutations)
  • Neuroblastoma (biallelic mutations)
  • Wilms tumor (biallelic mutations)
  • Breast cancer (monoallelic mutations)
  • Pancreatic cancer (monoallelic mutations)
  • Familial breast cancer
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
PHOX2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Neuroblastoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
PMS2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • MMR deficiency syndrome (biallelic mutations)
  • Lynch Syndrome (monoallelic mutations)
  • Hereditary Non-Polyposis Colon Cancer (HNPCC)(monoallelic mutations)
  • Brain tumors (biallelic mutations)
  • Hematological malignancy (biallelic mutations)
  • Supratentorial primitive neuroectodermal tumors (biallelic mutations)
  • Colorectal cancer (monoallelic mutations)
  • Endometrial cancer (monoallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Familial colon cancer
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
POLD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
POLE
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
PRKAR1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Carney Complex
  • Myxoma (cardiac/cutaneous/breast)
  • Thyroid cancer, adenoma
  • Pituitary adenoma
  • Testicular cancer (sex cord-stromal tumor)
  • Psammomatous melanotic schwannoma
  • Adrenal cortical hyperplasia (Primary pigmented nodular adrenocortical disease)
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
PTCH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Nevoid Basal Cell Carcinoma Syndrome
  • Gorlin Syndrome
  • Basal cell carcinoma
  • Medulloblastoma
  • Genodermatoses with malignancies
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
PTEN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Cowden Syndrome
  • PTEN Hamartoma Tumor Syndrome
  • Breast cancer
  • Thyroid cancer, adenoma
  • Endometrial cancer, leiomyoma
  • Colorectal cancer, adenoma, hamartoma
  • Renal cell cancer
  • Familial breast cancer
  • Genodermatoses with malignancies
  • Multiple bowel polyps
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
PTPN11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
RAD51C
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (O) (biallelic mutations)
  • Ovarian cancer (monoallelic mutations)
  • Familial breast cancer
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
RAD51D
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Ovarian cancer
  • Familial breast cancer
Tags
Green Green List (high evidence)
RB1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Retinoblastoma
  • Pinealoma
  • Sarcoma
  • Melanoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
RECQL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Rothmund-Thompson SyndromeOsteosarcoma
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
REST
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
RET
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Multiple Endocrine Neoplasia 2A/2B
  • Familial Medullary Thyroid Carcinoma
  • Medullary thyroid cancer
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
SDHA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
SDHAF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Paraganglioma-Pheochromocytoma Syndrome
  • Paraganglioma
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
SDHB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Paraganglioma-Pheochromocytoma Syndrome
  • Paraganglioma
  • Pheochromocytoma
  • Renal cell cancer
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
SDHC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Paraganglioma-Pheochromocytoma Syndrome
  • Paraganglioma
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
SDHD
1 review
 MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Paraganglioma-Pheochromocytoma Syndrome
  • Paraganglioma
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
SLX4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Fanconi Anemia (P)
  • Squamous cell carcinoma (head and neck)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
SMAD4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Juvenile Polyposis Syndrome
  • Colorectal cancer, hamartoma
  • Familial colon cancer
  • Multiple bowel polyps
Tags
Green Green List (high evidence)
SMARCA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdoid tumor predisposition syndrome 2, 613325
  • Mental retardation, autosomal dominant 16, 614609
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
SMARCB1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • TruSight Cancer Panel (Illumina)
  • UKGTN
Phenotypes
  • Rhabdoid Tumor Predisposition Syndrome
  • Rhabdoid Tumor Predisposition Syndrome 1
  • Rhabdoid Predisposition Syndrome
  • Rhabdoid tumor (renal, extra-renal)
  • Choroid plexus carcinoma
  • Medulloblastoma
  • Central primitive neuroectodermal tumor
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
SMARCE1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Familial Tumours Syndromes of the central & peripheral Nervous system
Tags
Green Green List (high evidence)
STK11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Peutz-Jeghers SyndromeColorectal cancer, hamartoma, adenoma
  • Gastric cancer, hamartoma, adenoma
  • Breast cancer
  • Ovarian cancer (epithelial, sex cord-stromal tumor)
  • Testicular cancer (sex cord-stromal tumor)
  • Pancreatic cancer
  • Cervical cancer (adenoma malignum)
  • Familial breast cancer
  • Familial colon cancer
Tags
Green Green List (high evidence)
SUFU
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Medulloblastoma
  • Genodermatoses with malignancies
Tags
Green Green List (high evidence)
TMEM127
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
TP53
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Li-Fraumeni SyndromeBreast cancer
  • Sarcoma
  • Adrenocortical carcinoma
  • Astrocytoma
  • Glioblastoma
  • Familial breast cancer
  • Multiple endocrine tumours
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
TRIM37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
TSC1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Tuberous sclerosis 1Renal cell cancer, angiomyolipoma
  • Subependymal giant cell astrocytoma
  • Rhabdomyoma (cardiac)
  • Hamartoma (retinal, gastrointestinal tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
TSC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Tuberous sclerosis 2Renal cell cancer, angiomyolipoma
  • Subependymal giant cell astrocytoma
  • Rhabdomyoma (cardiac)
  • Hamartoma (retinal, gastrointestinal tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Green Green List (high evidence)
VHL
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Von Hippel-Lindau Syndrome
  • Renal cell cancer
  • Pheochromocytoma
  • Neuroendocrine tumor (pancreas)
  • Hemangioblastoma (central nervous system, retina)
  • Familial Tumours Syndromes of the central & peripheral Nervous system
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
Tags
Green Green List (high evidence)
WT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • WAGR
  • Denys-Drash Syndrome
  • Frasier Syndrome Wilms tumor
  • Gonadoblastoma
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
Amber Amber List (moderate evidence)
AKT1
1 review
 Unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Breast cancer, somatic 114480
  • Colorectal cancer, somatic 114500
  • Cowden syndrome 6 615109
  • Ovarian cancer, somatic 167000
  • Proteus syndrome, somatic 176920
Tags
Amber Amber List (moderate evidence)
BARD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Breast cancer, susceptibility to} 114480
Tags
Amber Amber List (moderate evidence)
BRAF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Tags
Amber Amber List (moderate evidence)
CASR
1 review
 Unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcaemia
Tags
Amber Amber List (moderate evidence)
CHEK2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
  • UKGTN
Phenotypes
  • Breast cancer
Tags
Amber Amber List (moderate evidence)
CTRC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Pancreatitis, chronic, susceptibility to} 167800
Tags
Amber Amber List (moderate evidence)
EPCAM
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Lynch Syndrome
  • Hereditary Non-Polyposis Colon Cancer (HNPCC)
  • Muir-Torre SyndromeColorectal cancer
  • Endometrial cancer
  • Ovarian cancer
Tags
Amber Amber List (moderate evidence)
GALNT12
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Colorectal cancer, susceptibility to, 1} 608812
Tags
Amber Amber List (moderate evidence)
GNAS
1 review
 Unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • McCune-Albright syndrome, 174800
  • Pseudohypoparathyroidism Ia
Tags
Amber Amber List (moderate evidence)
HNF1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Maturity-Onset Diabetes of The Young, Type 3 (MODY3)
  • Hepatic adenoma
Tags
Amber Amber List (moderate evidence)
KIT
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
  • UKGTN
Phenotypes
  • Gastro-Intestinal Stromal Tumor
Tags
Amber Amber List (moderate evidence)
MITF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Melanoma
Tags
Amber Amber List (moderate evidence)
PDGFRA
1 review
 Unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Gastrointestinal stromal tumor, somatic 606764
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Tags
Amber Amber List (moderate evidence)
PDGFRB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Infantile myofibromatosis
  • Myofibromatosis, infantile, 1 228550
Tags
Amber Amber List (moderate evidence)
PIK3CA
1 review
 Unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Breast cancer, somatic 114480
  • CLOVE syndrome, somatic 612918
  • Colorectal cancer, somatic 114500
  • Cowden syndrome 5 615108
  • Gastric cancer, somatic 613659
  • Hepatocellular carcinoma, somatic 114550
  • Keratosis, seborrheic, somatic 182000
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
  • Nevus, epidermal, somatic 162900
  • Nonsmall cell lung cancer, somatic 211980
  • Ovarian cancer, somatic 167000
Tags
Amber Amber List (moderate evidence)
PPM1D
1 review
 Other - please specify in evaluation comments
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
  • UKGTN
Phenotypes
  • Breast cancer
  • Ovarian cancer
Tags
  • somatic
Amber Amber List (moderate evidence)
PRSS1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Pancreatitis, hereditary 167800
Tags
Amber Amber List (moderate evidence)
PRSS2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Pancreatitis, chronic, protection against} 167800
Tags
  • ensembl_ids_known_missing
Amber Amber List (moderate evidence)
SPINK1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Pancreatitis, hereditary 167800
  • Tropical calcific pancreatitis 608189
  • {Fibrocalculous pancreatic diabetes, susceptibility to} 608189
Tags
Amber Amber List (moderate evidence)
SPRED1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Legius syndrome 611431
Tags
Amber Amber List (moderate evidence)
VSIG10L
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial Barrett Neoplasia
Tags
Red Red List (low evidence)
CEBPA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Myeloid hematological malignancy (leukemia)
Tags
Red Red List (low evidence)
CEP57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Mosaic Variegated Aneuploidy Syndrome
Tags
Red Red List (low evidence)
CYLD
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Cylindromatosis
  • Brooke-Spiegler Syndrome
  • Familial Multiple Trichoepithelioma-1
  • Cylindroma
  • Trichoepithelioma
  • Spiradenoma
Tags
Red Red List (low evidence)
DDB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma Pigmentosum (E)
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags
Red Red List (low evidence)
EGFR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Non-small cell lung cancer
Tags
Red Red List (low evidence)
ERCC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma Pigmentosum (D)
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags
Red Red List (low evidence)
ERCC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma Pigmentosum (B)
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags
Red Red List (low evidence)
ERCC5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma Pigmentosum (G)
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags
Red Red List (low evidence)
ESR1
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Estrogen resistance, 615363
  • {HDL response to hormone replacement, augmented}
  • {Migraine, susceptibility to}, 157300
  • {Atherosclerosis, susceptibility to}
  • {Myocardial infarction, susceptibility to}, 608446
  • {Breast cancer}, 114480
Tags
Red Red List (low evidence)
EXT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Chondrosarcoma
Tags
Red Red List (low evidence)
EXT2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Chondrosarcoma
Tags
Red Red List (low evidence)
FANCM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • TruSight Cancer Panel (Illumina)
  • UKGTN
Phenotypes
  • Fanconi Anemia (M)
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
  • Squamous cell carcinoma (head and neck, esophagus, genital tract)
  • Paediatric congenital malformation-dysmorphism-tumour syndromes
Tags
  • drug-toxicity
Red Red List (low evidence)
FAP
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Colorectal cancer
Tags
Red Red List (low evidence)
FOXO1
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Rhabdomyosarcoma alveolar
Tags
Red Red List (low evidence)
FOXO3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes
Tags
Red Red List (low evidence)
GATA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Emberger Syndrome
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
Tags
Red Red List (low evidence)
GDNF
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711
Tags
Red Red List (low evidence)
GREM1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)
  • Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)
  • Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)
  • Polyposis Syndrome, Hereditary Mixed, 1
  • Hereditary Mixed Polyposis Syndrome
Tags
Red Red List (low evidence)
HOXB13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Prostate cancer
Tags
Red Red List (low evidence)
PRF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Familial Hemophagocytic Lymphohistiocytosis
  • Lymphoid hematological malignancy (lymphoma)
Tags
Red Red List (low evidence)
RHBDF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Esophageal cancer
Tags
Red Red List (low evidence)
RUNX1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Myeloid hematological malignancy (leukemia)
Tags
Red Red List (low evidence)
SBDS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Schwachman-Diamond Syndrome
  • Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
Tags
Red Red List (low evidence)
WRN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Werner Syndrome
  • Sarcoma
  • Melanoma
  • Thyroid cancer
Tags
Red Red List (low evidence)
XPA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma pigmentosum (A) Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags
Red Red List (low evidence)
XPC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Xeroderma pigmentosum (C) Basal cell carcinoma
  • Squamous cell carcinoma
  • Melanoma
Tags

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