Description
This panel was a panel created for application to rare disease participants recruited with haematological malignancies. 

It was based on the Haematological malignancies pertinent cancer susceptibility (Version 0.23) gene panel; a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed and submitted by Clare Turnbull, (Queen Mary University). It was reviewed by Helen Brittain (Senior Clinical Fellow in Rare Disease Genomics, Genomics England) and some changes were made prior to promoting this panel to Version 1.
Panel Activity

7 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

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

89 Entities

89 reviewed, 83 green

List Entity Reviews Mode of inheritance Details
89 Entitiess
Green Green List (high evidence)
ACD
1 review
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
  • 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
  • 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
2 reviews
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)
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
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)
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
  • 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
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
1 review
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
  • 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)
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)
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
  • 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)
RPS15
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
  • Chronic lymphocytic leukemia
Tags
  • gene-checked
  • somatic
  • watchlist
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
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
1 review
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)
TERT
1 review
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)
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
Amber Amber List (moderate evidence)
RAD51
4 reviews
2 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
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
Red Red List (low evidence)
RMRP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Red
Phenotypes
  • Class: miscellaneous
  • Cartilage-hair hypoplasia syndrome
  • Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
Tags
Red Red List (low evidence)
TERC
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Red
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

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