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.

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

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

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

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

3 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

93 Entities

93 reviewed, 85 green

List Entity Reviews Mode of inheritance Details
93 Entitiess
Green Green List (high evidence)
ACD
2 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)
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
  • Class: BM failure syndrome (typ AR)
  • Ataxia telangiectasia
  • leukaemia
  • lymphoma
  • medulloblastoma
  • glioma
  • ataxia-telangiectasia
  • Lymphoma, ALL (particularly T-ALL)
  • Leukaemia
Tags
Green Green List (high evidence)
BLM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Bloom syndrome
  • leukaemia
  • lymphoma
  • skin squamous cell
  • other tumour types
  • Lymphoma
  • ALL
  • MDS
  • AML
  • Leukaemia
  • Carcinomas
Tags
Green Green List (high evidence)
BRCA1
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)
BRCA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)
  • hereditary breast, ovarian cancer
  • 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)
BRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure FA, (typ AR)
  • AML
  • leukaemia
  • breast
  • Fanconi anaemia J
  • breast cancer susceptiblity
  • MDS
  • 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)
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: miscellaneous
  • Gauchers type 1
  • Myeloma Lymphoma Hepatocellular carcinoma
Tags
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)
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
  • Class: miscellaneous
  • 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)
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
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
  • Oral and GI squamous cell carcinoma
Tags
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
  • Class: BM failure syndrome (typ AR)
  • Dyskeratosis congenita
  • MDS, AML
  • Oral and GI squamous cell carcinoma
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)
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
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)
RPL27
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
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
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)
RPS15
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
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • 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
  • pharmacogenetic
  • 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
  • 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)
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)
TSR2
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, Leukemia risk not well defined
  • Osteosarcoma, soft tissue sarcomas
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Amber
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
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
2 reviews
1 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
No list No list
HPLH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 1
Tags

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