Haematological malignancies cancer susceptibility (Version 4.5)

The latest signed off version for the GMS is v4.0. 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/.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-This panel will be applied where relevant as a tumour-specific panel for patients recruited under haematological malignancy clinical indications.
-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/

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

11 reviewers

Ellen McDonagh (Genomics England Curator)

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

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Kiran Tawana (Addenbrooke's Hospital, Cambridge)

Group: Other NHS organisation
Workplace: NHS clinical service
Angela Hamblin (Oxford University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Lauma Freimane (Children's Clinical University Hospital)

Group: Other
Workplace: Other diagnostic lab

108 Entities

108 reviewed, 87 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 108 Entitiess
Green Green List (high evidence)	ACD	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 MDS, AML Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	ANKRD26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) Thrombocytopenia 2 Quantitative and qualitative platelet disorders with propensity to myeloid malignancy MDS, AML, CMML Tags
Green Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Ataxia-telangiectasia, OMIM:208900 T-cell prolymphocytic leukemia, somatic Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Bloom syndrome, OMIM:210900 Tags
Green Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Fanconi anemia, complementation group S, OMIM:617883 Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Ras-opathy Noonan-like JMML Tags
Green Green List (high evidence)	CEBPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) Familial AML with mutated CEBPA AML No other known cancer risks Tags
Green Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Dyskeratosis congenita MDS AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	DDX41	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) DDX41-related AML SCN3 AML, MDS (late onset), possibly others CML No other known cancer risks Tags
Green Green List (high evidence)	DKC1	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 Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	DNAJC21	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bone marrow failure syndrome 3, OMIM:617052 Bone marrow failure syndrome 3, MONDO:0014887 Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous HyperIgE syndrome Squamous cell carcinoma Lymphoma Tags
Green Green List (high evidence)	ELANE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Severe congenital neutropenia MDS, AML Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	ERCC6L2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bone marrow failure syndrome 2, OMIM:615715 Tags
Green Green List (high evidence)	ETV6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) Thrombocytopenia 5 Quantitative and qualitative platelet disorders with propensity to myeloid malignancy ALL, MDS, AML, CMML Thrombocytopenia No other known cancer risks Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) AML leukaemia Fanconi anaemia A MDS AML, Leukaemia Squamous cell carcinoma: oral, GI, vulvar 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 Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia AML leukaemia Fanconi anaemia C MDS AML, Leukaemia Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) AML leukaemia Fanconi anaemia D2 MDS AML, Acute myeloid leukaemia (AML) Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) AML leukaemia Fanconi anaemia E MDS Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) AML leukaemia Fanconi anaemia F MDS AML, Leukaemia Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) AML leukaemia Fanconi anaemia G MDS AML, Leukaemia Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	FAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Autoimmunie lymphoproliferative syndrome Lymphoma Tags
Green Green List (high evidence)	GATA1	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 Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) Familial AML with mutated GATA2, GATA2-spectrum disorders MDS, AML, CMML Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies No other known cancer risks Tags
Green Green List (high evidence)	GBA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Gauchers type 1 Myeloma Lymphoma Hepatocellular carcinoma Tags new-gene-name
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous MDS, AML Tags
Green Green List (high evidence)	IKZF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Acute lymphoblastic leukaemia (ALL) Immunodeficiency, common variable, 13, OMIM:616873 Tags
Green Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Lymphoproliferative syndrome 1 Hodgkins lymphoma Tags
Green Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes LIG4 syndrome, OMIM:606593 Ligase IV syndrome Lymphoma ALL Tags
Green Green List (high evidence)	MAD2L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	MBD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Multi-organ tumour predisposition syndrome Adenomatous colorectal polyposis Colorectal cancer Acute myeloid leukemia Uveal melanoma Tags
Green Green List (high evidence)	MLH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	MSH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	MSH6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency syndrome (Lynch syndrome) Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	NAF1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma Tags gene-checked
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) NHL (non-Hodgkin lymphoma) glioma medulloblastoma rhabdomyosarcoma Nijmegen breakage syndrome Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma Rare reports of brain tumors, rhabdomyosarcoma Tags
Green Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Ras-opathy Neurofibromatosis JMML, AML Optic glioma, malignant peripheral nerve sheath tumor Tags
Green Green List (high evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	NOP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	PARN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 Tags
Green Green List (high evidence)	PAX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) PAX5-related familial ALL, Susceptibility to ALL 3 ALL, B-ALL No other known cancer risks Tags
Green Green List (high evidence)	PMS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency syndrome (Lynch syndrome) Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) various leukaemia lymphoma Lymphoma, Leukaemia Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Ras-opathy Noonan syndrome JMML, ALL Solid tumors Tags
Green Green List (high evidence)	RAD21	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Children to Lymphoblastic Leukemia or Lymphoma Tags missense
Green Green List (high evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Cartilage-hair hypoplasia syndrome Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia Tags
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPL23	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags gene-checked
Green Green List (high evidence)	RPL26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPL31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags gene-checked
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPL36	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags gene-checked
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes ?Diamond-Blackfan anemia 17, OMIM:617409 Class: BM failure syndrome (typ AR) MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS27A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags gene-checked pharmacogenetics watchlist
Green Green List (high evidence)	RPS28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Green Green List (high evidence)	RTEL1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, Familial platelet disorder with propensity to myeloid malignancy AML, MDS Thrombocytopenia No other known cancer risks Tags
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Ataxia Pancytopenia Syndrome MDS, AML Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) AML MDS Schwachman-Diamond syndrome MDS, AML Tags
Green Green List (high evidence)	SH2D1A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Lymphoproliferative disease Lymphoma Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: familial predisp to leukaemia (typ AD) paediatric large granular lymphocytic leukaemia Leukaemia Tags
Green Green List (high evidence)	STN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	TERC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	TERT	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes {Leukemia, acute myeloid}, OMIM:601626 Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	TP53	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Li-Fraumeni syndrome ALL, AML, MDS Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Squamous cell carcinoma: oral, GI, vulvar Tags
Green Green List (high evidence)	WAS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) X-linked neutropenia Wiskott Adrich Syndrome lymphoma MDS, AML, Lymphoma Tags gene-therapy-trial
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	XRCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Squamous cell carcinoma: oral, GI, vulvar Tags
Amber Amber List (moderate evidence)	FANCM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags drug-toxicity
Amber Amber List (moderate evidence)	RAD51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Amber Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Amber Amber List (moderate evidence)	RAD51C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Phenotypes Class: BM failure FA, (typ AR) Fanconi anemia MDS AML Bone marrow failure Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Tags
Amber Amber List (moderate evidence)	SH2B3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Phenotypes Class: familial predisp to leukaemia (typ AD) SH2B3-related familial ALL ALL Autoimmunity No other known cancer risks Tags
Amber Amber List (moderate evidence)	STX11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Amber Amber List (moderate evidence)	STXBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes risk of lymphoma predisposition to acute lymphoblastic leukemia (ALL) Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Amber Amber List (moderate evidence)	UNC13D	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Increased risk of lymphoma predisposition to childhood anaplastic large cell lymphoma predisposition to leukemia increased susceptibility to malignancy Tags
Red Red List (low evidence)	CSF3R	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Acute myeloid leukaemia Hereditary neutrophilia Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 Tags somatic
Red Red List (low evidence)	RPL27	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red NHS GMS Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas Tags
Red Red List (low evidence)	RPS15	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red NHS GMS Phenotypes Diamond-Blackfan anemia Chronic lymphocytic leukemia Tags gene-checked somatic
Red Red List (low evidence)	TSR2	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Red NHS GMS Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 Tags
Red Red List (low evidence)	UBA2	1 review 1 red	Other	Sources Literature Phenotypes acute lymphoblastic leukemia Tags
No list No list	ADA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes severe combined immunodeficiency Tags
No list No list	DHX34	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Thrombocytopenia Neutropenia Pancytopenia AML Tags
No list No list	DNAH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes MDS/AML inherited bone marrow failure (IBMF) Tags
No list No list	HPLH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes Hemophagocytic lymphohistiocytosis, familial, 1 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list No list	KDM1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Multiple myeloma Tags
No list No list	NAPRT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes MDS/AML inherited bone marrow failure series Tags
No list No list	POT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Phenotypes Multiple myeloma Tags
No list No list	PTPN13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes bone marrow failure and acute lymphoblastic leukemia Tags
No list No list	TCF3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes B-cell acute lymphoblastic leukemia Tags

Major version comments

2023-03-22 16:29 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:46 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-10 16:25 Ellen McDonagh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.21) 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 12:26 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.

Haematological malignancies cancer susceptibility (Version 4.5)

11 reviewers

108 Entities

108 reviewed, 87 green

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags