Adult solid tumours cancer susceptibility (Version 2.21)

The latest signed off version for the GMS is v2.2. The current version, shown here, may differ from the signed-off version.

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.

Further information on the testing criteria and any overlapping clinical indications can be found within the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/245/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (18 Feb 2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-Three broad panels spanning cancer susceptibility genes will 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).

General Information:

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

-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 Cancer programme eligibility criteria refer to: https://www.genomicsengland.co.uk/cancer-programme/eligibility/

Panel Activity

6 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Clare Turnbull (Queen Mary University London)

Group: GeCIP domain
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other 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
Israel Gomy (Dana-Farber Cancer Institute)

Group: Other
Workplace: Research lab

105 Entities

99 reviewed, 82 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 105 Entitiess
Green Green List (high evidence)	APC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Adenomatous Polyposis Tags
Green Green List (high evidence)	ATM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Green Green List (high evidence)	BAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Melanocytic Tumor syndrome, Familial Uveal Melanoma Tags
Green Green List (high evidence)	BMPR1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Hereditary Mixed Polyposis Syndrome Tags
Green Green List (high evidence)	BRCA1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 Fanconi anemia, complementation group S, OMIM:617883 Tags
Green Green List (high evidence)	BRCA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes {Breast cancer, early-onset, susceptibility to}, OMIM:114480 Tags
Green Green List (high evidence)	CBL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Tags
Green Green List (high evidence)	CDC73	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Hyperparathyroidism-Jaw Tumor Syndrome Tags
Green Green List (high evidence)	CDH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer Tags
Green Green List (high evidence)	CDK4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Hereditary Melanoma Tags
Green Green List (high evidence)	CDKN1B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Multiple endocrine neoplasia, type IV, OMIM:610755 Thyroid cancer Pituitary adenoma Tags
Green Green List (high evidence)	CDKN2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS 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)	DDB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Green Green List (high evidence)	DICER1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800 Pleuropulmonary blastoma, OMIM:601200 Pleuropulmonary blastoma, MONDO:0011014 Rhabdomyosarcoma, embryonal, 2, OMIM:180295 Embryonal rhabdomyosarcoma (disease), MONDO:0009993 DICER1 syndrome Tags
Green Green List (high evidence)	EPCAM	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group D, 278730 Tags
Green Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group B, 610651 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, group F, 278760 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group G, 278780 Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCB	1 review 1 green	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 NHS GMS Phenotypes Fanconi anemia, complementation group B, 300514 Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fanconi Anemia Tags
Green Green List (high evidence)	FH	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Leiomyomatosis and renal cell cancer, OMIM:150800 Tags
Green Green List (high evidence)	FLCN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes renal oncocytoma Tags
Green Green List (high evidence)	HRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Costello syndrome Tags
Green Green List (high evidence)	KIT	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Gastrointestinal stromal tumor, familial, OMIM:606764 Tags
Green Green List (high evidence)	KRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Noonan syndrome 3 609942 Cardiofaciocutaneous syndrome 2 615278 Tags
Green Green List (high evidence)	MAX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes {Pheochromocytoma, susceptibility to}, OMIM:171300 Familial Pheochromocytoma, adrenal Tags
Green Green List (high evidence)	MEN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Multiple Endocrine Neoplasia Tags
Green Green List (high evidence)	MET	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Renal cell cancer, papillary carcinoma Tags
Green Green List (high evidence)	MLH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Lynch Syndrome CMMRD Tags
Green Green List (high evidence)	MSH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Lynch Syndrome CMMRD Tags
Green Green List (high evidence)	MSH6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Lynch Syndrome CMMRD Tags
Green Green List (high evidence)	MUTYH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Colorectal cancer Tags
Green Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Neurofibromatosis Tags
Green Green List (high evidence)	NF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Acoustic neuroma Tags
Green Green List (high evidence)	NRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cardio-Facio-cutanenous syndrome Noonan syndrome 6 613224 CFC Syndrome Tags
Green Green List (high evidence)	NTHL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Colorectal cancer Tags
Green Green List (high evidence)	PALB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 High Risk Breast Cancer Breast and Ovarian Cancer Tags
Green Green List (high evidence)	PMS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Lynch Syndrome CMMRD Tags
Green Green List (high evidence)	POLD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Colorectal cancer Endometrial cancer Tags
Green Green List (high evidence)	POLE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Colorectal cancer 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, OMIM:278750 Tags
Green Green List (high evidence)	PTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Gorlin syndrome, BCC Tags
Green Green List (high evidence)	PTEN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Cowden syndrome Tags
Green Green List (high evidence)	PTPN11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	RAD51C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Ovarian cancer Tags
Green Green List (high evidence)	RAD51D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Ovarian cancer Tags
Green Green List (high evidence)	RAF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes LEOPARD syndrome 2 611554 Noonan syndrome 5 611553 Tags
Green Green List (high evidence)	RB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Retinoblastoma Tags
Green Green List (high evidence)	RET	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Multiple Endocrine Neoplasia 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)	SDHA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes gastrointestinal stromal tumors Tags
Green Green List (high evidence)	SDHAF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Paraganglioma and Pheochromocytoma Tags
Green Green List (high evidence)	SDHB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Paraganglioma and Pheochromocytoma Tags
Green Green List (high evidence)	SDHC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Paraganglioma and Pheochromocytoma Tags
Green Green List (high evidence)	SDHD	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Paraganglioma and Pheochromocytoma Tags
Green Green List (high evidence)	SHOC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Noonan-like syndrome with loose anagen hair Tags
Green Green List (high evidence)	SMAD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis Tags
Green Green List (high evidence)	SMARCA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes predisposition to small cell ca Ovary with hypercalcemia Tags
Green Green List (high evidence)	SMARCB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Atypical rhabdoid tumor predisposition Tags
Green Green List (high evidence)	SOS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Noonan syndrome 4 610733 Tags
Green Green List (high evidence)	STK11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Peutz Jeghers syndrome Tags
Green Green List (high evidence)	SUFU	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes 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	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989 {Dyskeratosis congenita, autosomal dominant 2}, 613989 Tags
Green Green List (high evidence)	TMEM127	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Pheochromocytoma, adrenal Tags
Green Green List (high evidence)	TP53	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Li Fraumeni Syndrome Tags
Green Green List (high evidence)	TSC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Tuberous sclerosis type 1 Tags
Green Green List (high evidence)	TSC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Tuberous sclerosis type 2 Tags
Green Green List (high evidence)	VHL	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Paraganglioma and Pheochromocytoma VON HIPPEL-LINDAU (VHL) SYNDROME, 193300 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)	WT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial Wilms tumor Tags
Green Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Green Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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 Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags
Amber Amber List (moderate evidence)	AIP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Phenotypes Pituitary adenoma 1, multiple types 102200 Tags
Amber Amber List (moderate evidence)	BRAF	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Cardiofaciocutaneous syndrome 115150 Noonan syndrome 7 613706 LEOPARD syndrome 3 613707 Tags
Amber Amber List (moderate evidence)	CHEK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Breast cancer 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Xeroderma Pigmentosa Cerebrooculofacioskeletal syndrome 4, 610758 Tags
Amber Amber List (moderate evidence)	EXT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Other Phenotypes Chondrosarcoma 215300 Tags
Amber Amber List (moderate evidence)	EXT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Other Phenotypes Exostoses, multiple, type 2 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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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 Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 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)	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)	SLX4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Fanconi anemia, complementation group P, 613951 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)	DGCR8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Early-onset multinodular goiter and schwannomatosis Tags
Red Red List (low evidence)	NOP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 Tags
Red Red List (low evidence)	PDGFRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Gastrointestinal stromal tumor Tags
Red Red List (low evidence)	RABL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Research Phenotypes {?Pancreatic cancer, susceptibility to, 5} 618680 Tags
Red Red List (low evidence)	SPRED1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Legius syndrome 611431 Tags

Major version comments

2019-12-10 17:08 Ellen McDonagh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.7) was signed off under NHS Genomic Medicine Service governance on (10/Dec/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2018-09-07 12:04 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.

Adult solid tumours cancer susceptibility (Version 2.21)

6 reviewers

105 Entities

99 reviewed, 82 green

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