Description
This panel was a panel created for application to rare disease participants recruited with multiple tumours or young adult onset cancer.

See the individual eligibility statements for the disease for inclusion and exclusion criteria details.
Panel Activity

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sumir Pandit (University of Goettingen)

    Group: Other
    Workplace: Other

59 Entities

59 reviewed, 57 green

List Entity Reviews Mode of inheritance Details
59 Entitiess
Green Green List (high evidence)
AIP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pituitary adenoma 1, multiple types 102200
Tags
Green Green List (high evidence)
APC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Adenomatous Polyposis
Tags
Green Green List (high evidence)
ATM
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia, OMIM:208900
Tags
Green Green List (high evidence)
BAP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Tags
Green Green List (high evidence)
BMPR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
Tags
Green Green List (high evidence)
BRCA1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
  • Fanconi anemia, complementation group S, OMIM:617883
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • {Breast cancer, male, susceptibility to}, OMIM:114480
  • {Prostate cancer}, OMIM:176807
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Tags
Green Green List (high evidence)
CDC73
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism-Jaw Tumor Syndrome
Tags
Green Green List (high evidence)
CDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer
Tags
Green Green List (high evidence)
CDK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Melanoma
Tags
Green Green List (high evidence)
CDKN1B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Thyroid cancer
  • Pituitary adenoma
Tags
Green Green List (high evidence)
CDKN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, OMIM:155601
  • {Melanoma and neural system tumor syndrome}, OMIM:155755
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Tags
Green Green List (high evidence)
DICER1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • DICER1 syndrome, Familial Multinodular Goiter
Tags
Green Green List (high evidence)
EPCAM
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Tags
Green Green List (high evidence)
EXT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Chondrosarcoma 215300
Tags
Green Green List (high evidence)
EXT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Exostoses, multiple, type 2 133701
Tags
Green Green List (high evidence)
FH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leiomyomatosis and renal cell cancer, OMIM:150800
Tags
Green Green List (high evidence)
FLCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • renal oncocytoma
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
1 review
 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)
KIT
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gastrointestinal stromal tumor, familial, OMIM:606764
Tags
Green Green List (high evidence)
MAX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Pheochromocytoma, susceptibility to}, OMIM:171300
Tags
Green Green List (high evidence)
MEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
MET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal cell cancer, papillary carcinoma
Tags
Green Green List (high evidence)
MLH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MSH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MSH6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MUTYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurofibromatosis
Tags
Green Green List (high evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acoustic neuroma
Tags
Green Green List (high evidence)
NTHL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • breast, pancreas
Tags
Green Green List (high evidence)
PMS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
POLD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer
  • Endometrial cancer
Tags
Green Green List (high evidence)
POLE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
PTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Basal cell nevus syndrome 1, OMIM:109400
  • Gorlin syndrome
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cowden syndrome
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RAD51D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinoblastoma
Tags
Green Green List (high evidence)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
SDHA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • gastrointestinal stromal tumors
Tags
Green Green List (high evidence)
SDHAF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Paragangliomas 4, OMIM:115310
  • Pheochromocytoma, OMIM:171300
  • Paraganglioma and gastric stromal sarcoma, OMIM:606864
  • Gastrointestinal stromal tumor, OMIM:606764
Tags
Green Green List (high evidence)
SDHC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Tags
Green Green List (high evidence)
SMARCA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Tags
Green Green List (high evidence)
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Atypical rhabdoid tumor predisposition
Tags
Green Green List (high evidence)
STK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peutz Jeghers syndrome
Tags
Green Green List (high evidence)
SUFU
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
  • {Medulloblastoma}, OMIM:155255
  • {Meningioma, familial, susceptibility to}, OMIM:607174
Tags
Green Green List (high evidence)
TMEM127
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Pheochromocytoma, adrenal
Tags
Green Green List (high evidence)
TP53
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Li Fraumeni Syndrome
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 1
Tags
Green Green List (high evidence)
TSC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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 Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
WT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Wilms tumor
Tags
Amber Amber List (moderate evidence)
CHEK2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Breast cancer
Tags
Red Red List (low evidence)
PDGFRA
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
Tags

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