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Haematological malignancies v0.141 Bryony Thompson Added reviews for gene WAS from panel Mendeliome
Haematological malignancies v0.124 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.122 ERG Bryony Thompson gene: ERG was added
gene: ERG was added to Haematological malignancies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 38991192
Phenotypes for gene: ERG were set to Myelodysplasia syndrome, MONDO:0018881, ERG-related
Haematological malignancies v0.116 STN1 Bryony Thompson Mode of inheritance for gene: STN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies v0.114 SRP72 Bryony Thompson gene: SRP72 was added
gene: SRP72 was added to Haematological malignancies. Sources: Expert Review Amber,Victorian Clinical Genetics Services
disputed tags were added to gene: SRP72.
Mode of inheritance for gene: SRP72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP72 were set to 22541560; 31254415; 40922878; 37176611; 41472573; 40510848; 41142505
Phenotypes for gene: SRP72 were set to Bone marrow failure syndrome 1, MIM# 614675
Haematological malignancies v0.112 SRP54 Bryony Thompson gene: SRP54 was added
gene: SRP54 was added to Haematological malignancies. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP54 were set to 29914977; 28972538
Phenotypes for gene: SRP54 were set to Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752
Haematological malignancies v0.108 SH2B3 Bryony Thompson Mode of inheritance for gene: SH2B3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematological malignancies v0.102 SAMD9 Bryony Thompson gene: SAMD9 was added
gene: SAMD9 was added to Haematological malignancies. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SAMD9 were set to 33237688; 32619790; 16960814; 18094730
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053; Tumoral calcinosis, familial, normophosphatemic, MIM#610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041
Haematological malignancies v0.90 RPS20 Bryony Thompson gene: RPS20 was added
gene: RPS20 was added to Haematological malignancies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Mode of pathogenicity for gene: RPS20 was set to Other
Haematological malignancies v0.87 RPS15A Bryony Thompson gene: RPS15A was added
gene: RPS15A was added to Haematological malignancies. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Haematological malignancies v0.84 RPL9 Bryony Thompson gene: RPL9 was added
gene: RPL9 was added to Haematological malignancies. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044; 31799629
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Haematological malignancies v0.83 RPL8 Bryony Thompson gene: RPL8 was added
gene: RPL8 was added to Haematological malignancies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL8 were set to 25424902; 34961992
Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253
Haematological malignancies v0.74 RPL35 Bryony Thompson gene: RPL35 was added
gene: RPL35 was added to Haematological malignancies. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Haematological malignancies v0.53 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Haematological malignancies. Sources: Other
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 23250860
Phenotypes for gene: NRAS were set to Noonan syndrome 6, MIM# 613224
Review for gene: NRAS was set to RED
Added comment: NRAS is a somatic driver in haematological malignancies but germline variants cause Noonan syndrome and have not been associated with haematological malignancies.
Sources: Other
Haematological malignancies v0.44 MDM4 Bryony Thompson gene: MDM4 was added
gene: MDM4 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Amber,Other
Mode of inheritance for gene: MDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MDM4 were set to 32300648; 33104793
Phenotypes for gene: MDM4 were set to bone marrow failure syndrome MONDO:0000159, MDM4-related
Haematological malignancies v0.34 FASLG Bryony Thompson gene: FASLG was added
gene: FASLG was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASLG were set to 16627752; 17605793; 19794494; 8787672; 22857792; 33356695; 26334989; 25451160
Phenotypes for gene: FASLG were set to autoimmune lymphoproliferative syndrome MONDO:0017979
Haematological malignancies v0.10 CD70 Bryony Thompson gene: CD70 was added
gene: CD70 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CD70.
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Haematological malignancies v0.9 CD27 Bryony Thompson gene: CD27 was added
gene: CD27 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22197273; 22801960; 22365582; 25843314; 11062504
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia
Haematological malignancies v0.0 UBA2 Bryony Thompson gene: UBA2 was added
gene: UBA2 was added to Haematological malignancies cancer susceptibility. Sources: Literature
Mode of inheritance for gene: UBA2 was set to Other
Publications for gene: UBA2 were set to 34982829
Phenotypes for gene: UBA2 were set to acute lymphoblastic leukemia
Haematological malignancies v0.0 TSR2 Bryony Thompson gene: TSR2 was added
gene: TSR2 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Red,Curated sources,NHS GMS
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TSR2 were set to 28297620
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Haematological malignancies v0.0 RPS15 Bryony Thompson gene: RPS15 was added
gene: RPS15 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Red,Curated sources,NHS GMS
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS15 were set to 26675346; 34251413; 28297620; 19061985; 30181176; 26466571
Phenotypes for gene: RPS15 were set to Chronic lymphocytic leukemia; Diamond-Blackfan anemia
Haematological malignancies v0.0 RPL27 Bryony Thompson gene: RPL27 was added
gene: RPL27 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Red,Curated sources,NHS GMS
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL27 were set to 28297620
Phenotypes for gene: RPL27 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 CSF3R Bryony Thompson gene: CSF3R was added
gene: CSF3R was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CSF3R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF3R were set to 19620628; 24753537; 26324699; 12203110
Phenotypes for gene: CSF3R were set to Hereditary neutrophilia; Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014; Acute myeloid leukaemia
Haematological malignancies v0.0 UNC13D Bryony Thompson gene: UNC13D was added
gene: UNC13D was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber,Expert list
Mode of inheritance for gene: UNC13D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13D were set to 24309606; 24827398; 21370424; 30758854
Phenotypes for gene: UNC13D were set to increased susceptibility to malignancy; predisposition to childhood anaplastic large cell lymphoma; Increased risk of lymphoma; predisposition to leukemia
Haematological malignancies v0.0 TCF3 Bryony Thompson gene: TCF3 was added
gene: TCF3 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCF3 were set to 36576946; 37129918
Phenotypes for gene: TCF3 were set to B-cell acute lymphoblastic leukemia, MONDO:0004947
Haematological malignancies v0.0 STXBP2 Bryony Thompson gene: STXBP2 was added
gene: STXBP2 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber,Expert list
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 23100279; 24827398
Phenotypes for gene: STXBP2 were set to risk of lymphoma; predisposition to acute lymphoblastic leukemia (ALL); Hemophagocytic lymphohistiocytosis, familial, 5 613101
Haematological malignancies v0.0 STX11 Bryony Thompson gene: STX11 was added
gene: STX11 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber,Expert list
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX11 were set to 26176172; 16582076
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552
Haematological malignancies v0.0 SH2B3 Bryony Thompson gene: SH2B3 was added
gene: SH2B3 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Amber
Mode of inheritance for gene: SH2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH2B3 were set to 23908464; 27913496; 39316992; 27881370; 28484264
Phenotypes for gene: SH2B3 were set to Autoimmunity; No other known cancer risks; Class: familial predisp to leukaemia (typ AD); SH2B3-related familial ALL; ALL
Haematological malignancies v0.0 RAD51C Bryony Thompson gene: RAD51C was added
gene: RAD51C was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Amber
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD51C were set to 27881370; 28297620
Phenotypes for gene: RAD51C were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 RAD51 Bryony Thompson gene: RAD51 was added
gene: RAD51 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Amber
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD51 were set to 26681308; 26253028; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244
Haematological malignancies v0.0 PTPN13 Bryony Thompson gene: PTPN13 was added
gene: PTPN13 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN13 were set to PMID: 35643866
Phenotypes for gene: PTPN13 were set to bone marrow failure and acute lymphoblastic leukemia
Haematological malignancies v0.0 POT1 Bryony Thompson gene: POT1 was added
gene: POT1 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POT1 were set to 39845416; 33216348; 34193977; 27528712; 29693246; 34769003; 36467798
Phenotypes for gene: POT1 were set to Multiple myeloma; Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers
Haematological malignancies v0.0 NAPRT Bryony Thompson gene: NAPRT was added
gene: NAPRT was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: NAPRT was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: NAPRT were set to 32098966
Phenotypes for gene: NAPRT were set to MDS/AML; inherited bone marrow failure series
Haematological malignancies v0.0 KDM1A Bryony Thompson gene: KDM1A was added
gene: KDM1A was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM1A were set to 39845416; 29559475
Phenotypes for gene: KDM1A were set to Multiple myeloma
Haematological malignancies v0.0 HAVCR2 Bryony Thompson gene: HAVCR2 was added
gene: HAVCR2 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review,Expert Review Amber,Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30792187; 32005988; 30374066; 32285995
Phenotypes for gene: HAVCR2 were set to subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475; T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398
Mode of pathogenicity for gene: HAVCR2 was set to Other
Haematological malignancies v0.0 FANCM Bryony Thompson gene: FANCM was added
gene: FANCM was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Amber
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 27881370; 28297620
Phenotypes for gene: FANCM were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 DNAH9 Bryony Thompson gene: DNAH9 was added
gene: DNAH9 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 32098966
Phenotypes for gene: DNAH9 were set to MDS/AML; inherited bone marrow failure (IBMF)
Haematological malignancies v0.0 DHX34 Bryony Thompson gene: DHX34 was added
gene: DHX34 was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: DHX34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX34 were set to 32098966
Phenotypes for gene: DHX34 were set to acute myeloid leukemia; myelodysplastic syndrome
Haematological malignancies v0.0 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Haematological malignancies cancer susceptibility. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 32098966
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700
Haematological malignancies v0.0 XRCC2 Bryony Thompson gene: XRCC2 was added
gene: XRCC2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 28297620
Phenotypes for gene: XRCC2 were set to MDS; Fanconi anemia; AML; Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 WRAP53 Bryony Thompson gene: WRAP53 was added
gene: WRAP53 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 27881370; 28297620
Phenotypes for gene: WRAP53 were set to MDS, AML; Bone marrow failure, macrocytosis; Class: BM failure syndrome (typ AR); Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Dyskeratosis congenita
Haematological malignancies v0.0 WAS Bryony Thompson gene: WAS was added
gene: WAS was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WAS were set to 28297620; Cancer Gene Census
Phenotypes for gene: WAS were set to lymphoma; MDS, AML, Lymphoma; Class: BM failure syndrome (typ AR); Wiskott Adrich Syndrome; X-linked neutropenia
Haematological malignancies v0.0 UBE2T Bryony Thompson gene: UBE2T was added
gene: UBE2T was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 28297620
Phenotypes for gene: UBE2T were set to MDS; Fanconi anemia; AML; Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 TP53 Bryony Thompson gene: TP53 was added
gene: TP53 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TP53 were set to 27881370; 28297620
Phenotypes for gene: TP53 were set to Class: Familial cancer syndrome; ALL, AML, MDS; Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma; Li-Fraumeni syndrome
Haematological malignancies v0.0 TINF2 Bryony Thompson gene: TINF2 was added
gene: TINF2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 27881370; 28297620
Phenotypes for gene: TINF2 were set to MDS, AML; Bone marrow failure, macrocytosis; Class: BM failure syndrome (typ AR); Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Dyskeratosis congenita
Haematological malignancies v0.0 TERT Bryony Thompson gene: TERT was added
gene: TERT was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TERT were set to 27881370; 28297620
Phenotypes for gene: TERT were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742; {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
Haematological malignancies v0.0 TERC Bryony Thompson gene: TERC was added
gene: TERC was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 27881370; 28297620
Phenotypes for gene: TERC were set to MDS, AML; Bone marrow failure, macrocytosis; Class: BM failure syndrome (typ AR); Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Dyskeratosis congenita
Haematological malignancies v0.0 STN1 Bryony Thompson gene: STN1 was added
gene: STN1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: STN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STN1 were set to 28297620
Phenotypes for gene: STN1 were set to Oral and GI squamous cell carcinoma; MDS, AML; Dyskeratosis congenita; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 STAT3 Bryony Thompson gene: STAT3 was added
gene: STAT3 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STAT3 were set to Cancer Gene Census
Phenotypes for gene: STAT3 were set to Leukaemia; paediatric large granular lymphocytic leukaemia; Class: familial predisp to leukaemia (typ AD)
Haematological malignancies v0.0 SLX4 Bryony Thompson gene: SLX4 was added
gene: SLX4 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 27881370; 28297620
Phenotypes for gene: SLX4 were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 SH2D1A Bryony Thompson gene: SH2D1A was added
gene: SH2D1A was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative disease; Class: miscellaneous; Lymphoma
Haematological malignancies v0.0 SBDS Bryony Thompson gene: SBDS was added
gene: SBDS was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBDS were set to 28297620; Cancer Gene Census
Phenotypes for gene: SBDS were set to MDS, AML; Schwachman-Diamond syndrome; MDS; Class: BM failure syndrome (typ AR); AML
Haematological malignancies v0.0 SAMD9L Bryony Thompson gene: SAMD9L was added
gene: SAMD9L was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to 28297620
Phenotypes for gene: SAMD9L were set to MDS, AML; Class: miscellaneous; Ataxia Pancytopenia Syndrome
Haematological malignancies v0.0 RUNX1 Bryony Thompson gene: RUNX1 was added
gene: RUNX1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RUNX1 were set to 27881370; 28297620
Phenotypes for gene: RUNX1 were set to 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; Class: familial predisp to leukaemia (typ AD)
Haematological malignancies v0.0 RTEL1 Bryony Thompson gene: RTEL1 was added
gene: RTEL1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 28297620
Phenotypes for gene: RTEL1 were set to Oral and GI squamous cell carcinoma; MDS, AML; Dyskeratosis congenita; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS7 Bryony Thompson gene: RPS7 was added
gene: RPS7 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS7 were set to 28297620
Phenotypes for gene: RPS7 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS29 Bryony Thompson gene: RPS29 was added
gene: RPS29 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS29 were set to 28297620
Phenotypes for gene: RPS29 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS28 Bryony Thompson gene: RPS28 was added
gene: RPS28 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS28 were set to 28297620
Phenotypes for gene: RPS28 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS27A Bryony Thompson gene: RPS27A was added
gene: RPS27A was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS27A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS27A were set to 28297620; 24680683; 26942564
Phenotypes for gene: RPS27A were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS27 Bryony Thompson gene: RPS27 was added
gene: RPS27 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS27 were set to 28297620
Phenotypes for gene: RPS27 were set to Class: BM failure syndrome (typ AR); Osteosarcoma, soft tissue sarcomas; MDS, AML; ?Diamond-Blackfan anemia 17, OMIM:617409
Haematological malignancies v0.0 RPS26 Bryony Thompson gene: RPS26 was added
gene: RPS26 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS26 were set to 28297620
Phenotypes for gene: RPS26 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS24 Bryony Thompson gene: RPS24 was added
gene: RPS24 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS24 were set to 28297620
Phenotypes for gene: RPS24 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS19 Bryony Thompson gene: RPS19 was added
gene: RPS19 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS19 were set to 28297620
Phenotypes for gene: RPS19 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS17 Bryony Thompson gene: RPS17 was added
gene: RPS17 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS17 were set to 28297620
Phenotypes for gene: RPS17 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPS10 Bryony Thompson gene: RPS10 was added
gene: RPS10 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS10 were set to 28297620
Phenotypes for gene: RPS10 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL5 Bryony Thompson gene: RPL5 was added
gene: RPL5 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL5 were set to 28297620
Phenotypes for gene: RPL5 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL36 Bryony Thompson gene: RPL36 was added
gene: RPL36 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL36 were set to 28297620
Phenotypes for gene: RPL36 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL35A Bryony Thompson gene: RPL35A was added
gene: RPL35A was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL35A were set to 28297620
Phenotypes for gene: RPL35A were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL31 Bryony Thompson gene: RPL31 was added
gene: RPL31 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL31 were set to 28297620
Phenotypes for gene: RPL31 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL26 Bryony Thompson gene: RPL26 was added
gene: RPL26 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 28297620
Phenotypes for gene: RPL26 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL23 Bryony Thompson gene: RPL23 was added
gene: RPL23 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL23 were set to 28297620
Phenotypes for gene: RPL23 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL15 Bryony Thompson gene: RPL15 was added
gene: RPL15 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL15 were set to 28297620
Phenotypes for gene: RPL15 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RPL11 Bryony Thompson gene: RPL11 was added
gene: RPL11 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL11 were set to 28297620
Phenotypes for gene: RPL11 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia; Class: miscellaneous; Cartilage-hair hypoplasia syndrome
Haematological malignancies v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Haematological malignancies cancer susceptibility. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 35563565
Phenotypes for gene: RAD21 were set to Children to Lymphoblastic Leukemia or Lymphoma
Haematological malignancies v0.0 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 28297620
Phenotypes for gene: PTPN11 were set to Class: Ras-opathy; Solid tumors; Noonan syndrome; JMML, ALL
Haematological malignancies v0.0 PRF1 Bryony Thompson gene: PRF1 was added
gene: PRF1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to Cancer Gene Census
Phenotypes for gene: PRF1 were set to lymphoma; Lymphoma, Leukaemia; various leukaemia; Class: familial predisp to leukaemia (typ AD)
Haematological malignancies v0.0 PMS2 Bryony Thompson gene: PMS2 was added
gene: PMS2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMS2 were set to 27881370; 28297620
Phenotypes for gene: PMS2 were set to Class: Familial cancer syndrome; Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency syndrome (Lynch syndrome); Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Haematological malignancies v0.0 PAX5 Bryony Thompson gene: PAX5 was added
gene: PAX5 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX5 were set to 27881370; 28297620
Phenotypes for gene: PAX5 were set to No other known cancer risks; ALL, B-ALL; Class: familial predisp to leukaemia (typ AD); PAX5-related familial ALL, Susceptibility to ALL 3
Haematological malignancies v0.0 PARN Bryony Thompson gene: PARN was added
gene: PARN was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PARN were set to 28297620
Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371; Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
Haematological malignancies v0.0 PALB2 Bryony Thompson gene: PALB2 was added
gene: PALB2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: PALB2 were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 NOP10 Bryony Thompson gene: NOP10 was added
gene: NOP10 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP10 were set to 28297620
Phenotypes for gene: NOP10 were set to Oral and GI squamous cell carcinoma; MDS, AML; Dyskeratosis congenita; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 NHP2 Bryony Thompson gene: NHP2 was added
gene: NHP2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHP2 were set to 27881370; 28297620
Phenotypes for gene: NHP2 were set to MDS, AML; Bone marrow failure, macrocytosis; Class: BM failure syndrome (typ AR); Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Dyskeratosis congenita
Haematological malignancies v0.0 NF1 Bryony Thompson gene: NF1 was added
gene: NF1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 28297620
Phenotypes for gene: NF1 were set to Class: Ras-opathy; JMML, AML; Optic glioma, malignant peripheral nerve sheath tumor; Neurofibromatosis
Haematological malignancies v0.0 NBN Bryony Thompson gene: NBN was added
gene: NBN was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 28297620; Cancer Gene Census
Phenotypes for gene: NBN were set to Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma; Nijmegen breakage syndrome; medulloblastoma; glioma; rhabdomyosarcoma; Class: BM failure syndrome (typ AR); NHL (non-Hodgkin lymphoma); Rare reports of brain tumors, rhabdomyosarcoma
Haematological malignancies v0.0 NAF1 Bryony Thompson gene: NAF1 was added
gene: NAF1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NAF1 were set to 28297620; 17016622
Phenotypes for gene: NAF1 were set to Oral and GI squamous cell carcinoma; MDS, AML; Dyskeratosis congenita; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 MSH6 Bryony Thompson gene: MSH6 was added
gene: MSH6 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH6 were set to 27881370; 28297620
Phenotypes for gene: MSH6 were set to Class: Familial cancer syndrome; Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency syndrome (Lynch syndrome); Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Haematological malignancies v0.0 MSH2 Bryony Thompson gene: MSH2 was added
gene: MSH2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH2 were set to 27881370; 28297620
Phenotypes for gene: MSH2 were set to Class: Familial cancer syndrome; Constitutional mismatch repair deficiency; Lymphoma, ALL, MDS, AML; Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Haematological malignancies v0.0 MLH1 Bryony Thompson gene: MLH1 was added
gene: MLH1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLH1 were set to 27881370; 28297620
Phenotypes for gene: MLH1 were set to Class: Familial cancer syndrome; Constitutional mismatch repair deficiency; Lymphoma, ALL, MDS, AML; Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Haematological malignancies v0.0 MBD4 Bryony Thompson gene: MBD4 was added
gene: MBD4 was added to Haematological malignancies cancer susceptibility. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBD4 were set to PMID: 32239153; PMID: 29760383; PMID: 30049810
Phenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2, OMIM:619975; Uveal melanoma; Acute myeloid leukemia; Multi-organ tumour predisposition syndrome; Adenomatous colorectal polyposis; Colorectal cancer
Haematological malignancies v0.0 MAD2L2 Bryony Thompson gene: MAD2L2 was added
gene: MAD2L2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 28297620
Phenotypes for gene: MAD2L2 were set to MDS; Fanconi anemia; AML; Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 LIG4 Bryony Thompson gene: LIG4 was added
gene: LIG4 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 28297620
Phenotypes for gene: LIG4 were set to LIG4 syndrome, OMIM:606593; ALL; Ligase IV syndrome; Lymphoma
Haematological malignancies v0.0 ITK Bryony Thompson gene: ITK was added
gene: ITK was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1; Hodgkins lymphoma; Class: miscellaneous
Haematological malignancies v0.0 IKZF1 Bryony Thompson gene: IKZF1 was added
gene: IKZF1 was added to Haematological malignancies cancer susceptibility. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 26981933; 28096536; 29681510
Phenotypes for gene: IKZF1 were set to Acute lymphoblastic leukaemia (ALL); Immunodeficiency, common variable, 13, OMIM:616873
Haematological malignancies v0.0 HAX1 Bryony Thompson gene: HAX1 was added
gene: HAX1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAX1 were set to 28297620
Phenotypes for gene: HAX1 were set to Class: miscellaneous; MDS, AML
Haematological malignancies v0.0 GBA Bryony Thompson gene: GBA was added
gene: GBA was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Class: miscellaneous; Myeloma Lymphoma Hepatocellular carcinoma; Gauchers type 1
Haematological malignancies v0.0 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA2 were set to 27881370; 28297620
Phenotypes for gene: GATA2 were set to MDS, AML, CMML; No other known cancer risks; Class: familial predisp to leukaemia (typ AD); Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies; Familial AML with mutated GATA2, GATA2-spectrum disorders
Haematological malignancies v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GATA1 were set to 28297620
Phenotypes for gene: GATA1 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.0 FAS Bryony Thompson gene: FAS was added
gene: FAS was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FAS were set to Autoimmunie lymphoproliferative syndrome; Class: miscellaneous; Lymphoma
Haematological malignancies v0.0 FANCL Bryony Thompson gene: FANCL was added
gene: FANCL was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 27881370; 28297620
Phenotypes for gene: FANCL were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCI Bryony Thompson gene: FANCI was added
gene: FANCI was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 27881370; 28297620
Phenotypes for gene: FANCI were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCG Bryony Thompson gene: FANCG was added
gene: FANCG was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: FANCG were set to Fanconi anaemia G; AML, Leukaemia; Bone marrow failure; MDS; leukaemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCF Bryony Thompson gene: FANCF was added
gene: FANCF was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: FANCF were set to AML, Leukaemia; Bone marrow failure; MDS; leukaemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR); Fanconi anaemia F
Haematological malignancies v0.0 FANCE Bryony Thompson gene: FANCE was added
gene: FANCE was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: FANCE were set to Bone marrow failure; Fanconi anaemia E; MDS; leukaemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCD2 Bryony Thompson gene: FANCD2 was added
gene: FANCD2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: FANCD2 were set to Bone marrow failure; MDS; AML, Acute myeloid leukaemia (AML); leukaemia; AML; Fanconi anaemia D2; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCC Bryony Thompson gene: FANCC was added
gene: FANCC was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 27881370
Phenotypes for gene: FANCC were set to AML, Leukaemia; Bone marrow failure; MDS; Fanconi anemia; leukaemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Fanconi anaemia C; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCB Bryony Thompson gene: FANCB was added
gene: FANCB was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FANCB were set to 27881370; 28297620
Phenotypes for gene: FANCB were set to Bone marrow failure; MDS; Fanconi anemia; AML; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 FANCA Bryony Thompson gene: FANCA was added
gene: FANCA was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 28297620; Cancer Gene Census
Phenotypes for gene: FANCA were set to AML, Leukaemia; MDS; leukaemia; AML; Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR); Fanconi anaemia A
Haematological malignancies v0.0 ETV6 Bryony Thompson gene: ETV6 was added
gene: ETV6 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ETV6 were set to 27881370; 28297620
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5; Thrombocytopenia; Quantitative and qualitative platelet disorders with propensity to myeloid malignancy; No other known cancer risks; Class: familial predisp to leukaemia (typ AD); ALL, MDS, AML, CMML
Haematological malignancies v0.0 ERCC6L2 Bryony Thompson gene: ERCC6L2 was added
gene: ERCC6L2 was added to Haematological malignancies cancer susceptibility. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 30936069; 31221794
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, OMIM:615715
Haematological malignancies v0.0 ERCC4 Bryony Thompson gene: ERCC4 was added
gene: ERCC4 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 28297620
Phenotypes for gene: ERCC4 were set to MDS; Fanconi anemia; AML; Squamous cell carcinoma: oral, GI, vulvar; Class: BM failure FA, (typ AR)
Haematological malignancies v0.0 ELANE Bryony Thompson gene: ELANE was added
gene: ELANE was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELANE were set to 28297620
Phenotypes for gene: ELANE were set to Class: miscellaneous; Severe congenital neutropenia; MDS, AML
Haematological malignancies v0.0 DOCK8 Bryony Thompson gene: DOCK8 was added
gene: DOCK8 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Lymphoma; Class: miscellaneous; HyperIgE syndrome; Squamous cell carcinoma
Haematological malignancies v0.0 DNAJC21 Bryony Thompson gene: DNAJC21 was added
gene: DNAJC21 was added to Haematological malignancies cancer susceptibility. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29146883; 29700810; 27346687; 28062395
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MONDO:0014887; Bone marrow failure syndrome 3, OMIM:617052
Haematological malignancies v0.0 DKC1 Bryony Thompson gene: DKC1 was added
gene: DKC1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DKC1 were set to 27881370; 28297620
Phenotypes for gene: DKC1 were set to MDS, AML; Bone marrow failure, macrocytosis; Class: BM failure syndrome (typ AR); Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Dyskeratosis congenita
Haematological malignancies v0.0 DDX41 Bryony Thompson gene: DDX41 was added
gene: DDX41 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX41 were set to 27881370; 28297620
Phenotypes for gene: DDX41 were set to DDX41-related AML; SCN3; CML; AML, MDS (late onset), possibly others; No other known cancer risks; Class: familial predisp to leukaemia (typ AD)
Haematological malignancies v0.0 CTC1 Bryony Thompson gene: CTC1 was added
gene: CTC1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 27881370; 28297620
Phenotypes for gene: CTC1 were set to Bone marrow failure, macrocytosis; MDS; AML; Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma; Class: BM failure FA, (typ AR); Dyskeratosis congenita
Haematological malignancies v0.0 CEBPA Bryony Thompson gene: CEBPA was added
gene: CEBPA was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: CEBPA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CEBPA were set to 27881370; 28297620
Phenotypes for gene: CEBPA were set to No other known cancer risks; Familial AML with mutated CEBPA; AML; Class: familial predisp to leukaemia (typ AD)
Haematological malignancies v0.0 CBL Bryony Thompson gene: CBL was added
gene: CBL was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 28297620
Phenotypes for gene: CBL were set to Class: Ras-opathy; Noonan-like; JMML
Haematological malignancies v0.0 BRIP1 Bryony Thompson gene: BRIP1 was added
gene: BRIP1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, OMIM:609054
Haematological malignancies v0.0 BRCA2 Bryony Thompson gene: BRCA2 was added
gene: BRCA2 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 27881370; 28297620; Cancer Gene Census
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, OMIM:605724
Haematological malignancies v0.0 BRCA1 Bryony Thompson gene: BRCA1 was added
gene: BRCA1 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 28297620
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, OMIM:617883
Haematological malignancies v0.0 BLM Bryony Thompson gene: BLM was added
gene: BLM was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLM were set to 28297620; Cancer Gene Census
Phenotypes for gene: BLM were set to Bloom syndrome, OMIM:210900
Haematological malignancies v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATM were set to 28297620; Cancer Gene Census
Phenotypes for gene: ATM were set to T-cell prolymphocytic leukemia, somatic; Ataxia-telangiectasia, OMIM:208900
Haematological malignancies v0.0 ANKRD26 Bryony Thompson gene: ANKRD26 was added
gene: ANKRD26 was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD26 were set to 28297620; 27881370
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2; MDS, AML, CMML; Class: familial predisp to leukaemia (typ AD); Quantitative and qualitative platelet disorders with propensity to myeloid malignancy
Haematological malignancies v0.0 ACD Bryony Thompson gene: ACD was added
gene: ACD was added to Haematological malignancies cancer susceptibility. Sources: Curated sources,Expert Review Green
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ACD were set to 28297620
Phenotypes for gene: ACD were set to Dyskeratosis congenita, autosomal recessive 7, OMIM:616553; Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; MDS, AML; Oral and GI squamous cell carcinoma