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Haematological malignancies v0.146 Bryony Thompson HPO terms changed from to Hematological neoplasm, HP:0004377
List of related panels changed from to Hematological neoplasm; HP:0004377
Panel status changed from internal to public
Haematological malignancies v0.143 Bryony Thompson Added reviews for gene XRCC2 from panel Mendeliome
Haematological malignancies v0.142 Bryony Thompson Added reviews for gene WRAP53 from panel Mendeliome
Haematological malignancies v0.141 Bryony Thompson Added reviews for gene WAS from panel Mendeliome
Haematological malignancies v0.140 UNC13D Bryony Thompson Marked gene: UNC13D as ready
Haematological malignancies v0.140 UNC13D Bryony Thompson Gene: unc13d has been classified as Red List (Low Evidence).
Haematological malignancies v0.140 UNC13D Bryony Thompson Classified gene: UNC13D as Red List (low evidence)
Haematological malignancies v0.140 UNC13D Bryony Thompson Gene: unc13d has been classified as Red List (Low Evidence).
Haematological malignancies v0.139 UNC13D Bryony Thompson reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: 39569186, 24309606, 24827398, 21370424, 30758854; Phenotypes: hereditary hemophagocytic lymphohistiocytosis MONDO:0015541; Mode of inheritance: None
Haematological malignancies v0.139 UBE2T Bryony Thompson Publications for gene: UBE2T were set to 28297620
Haematological malignancies v0.138 Bryony Thompson Added reviews for gene UBE2T from panel Mendeliome
Haematological malignancies v0.137 UBA2 Bryony Thompson Classified gene: UBA2 as Red List (low evidence)
Haematological malignancies v0.137 UBA2 Bryony Thompson Added comment: Comment on list classification: Somatic change not germline
Haematological malignancies v0.137 UBA2 Bryony Thompson Gene: uba2 has been classified as Red List (Low Evidence).
Haematological malignancies v0.136 TSR2 Bryony Thompson Publications for gene: TSR2 were set to 28297620
Haematological malignancies v0.135 Bryony Thompson Added reviews for gene TSR2 from panel Mendeliome
Haematological malignancies v0.134 TP53 Bryony Thompson Publications for gene: TP53 were set to 27881370; 28297620
Haematological malignancies v0.133 TP53 Bryony Thompson reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 38203823; Phenotypes: Li-Fraumeni syndrome MONDO:0018875; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.133 Bryony Thompson Added reviews for gene TINF2 from panel Mendeliome
Haematological malignancies v0.132 Bryony Thompson Added reviews for gene TERT from panel Bone Marrow Failure
Haematological malignancies v0.131 Bryony Thompson Added reviews for gene TERC from panel Mendeliome
Haematological malignancies v0.130 STXBP2 Bryony Thompson Publications for gene: STXBP2 were set to 23100279; 24827398
Haematological malignancies v0.129 STXBP2 Bryony Thompson edited their review of gene: STXBP2: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies v0.129 STXBP2 Bryony Thompson reviewed gene: STXBP2: Rating: ; Mode of pathogenicity: None; Publications: 40262927, 23100279; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: None
Haematological malignancies v0.129 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from 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) to FANCM Fanconi-like genomic instability disorder MONDO:0100578
Haematological malignancies v0.128 FANCM Bryony Thompson Publications for gene: FANCM were set to 27881370; 28297620
Haematological malignancies v0.127 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Haematological malignancies v0.127 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Haematological malignancies v0.126 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28837157, 31942822, 34793962, 37608704; Phenotypes: FANCM Fanconi-like genomic instability disorder MONDO:0100578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies v0.126 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Haematological malignancies v0.126 RPL27 Zornitza Stark Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.126 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR) to Osteosarcoma, soft tissue sarcomas; Diamond-Blackfan anaemia 16, MIM# 617408; MDS, AML; Class: BM failure syndrome (typ AR)
Haematological malignancies v0.125 RPL27 Zornitza Stark Publications for gene: RPL27 were set to 28297620
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 v0.123 RPL27 Zornitza Stark Classified gene: RPL27 as Amber List (moderate evidence)
Haematological malignancies v0.123 RPL27 Zornitza Stark Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.122 RPL27 Zornitza Stark edited their review of gene: RPL27: Added comment: PMID 38988374 reports an individual from a second unrelated family with a de novo splice‑site RPL27 variant and a DBA phenotype.; Changed rating: AMBER; Changed publications: 25424902, 38988374; Changed phenotypes: Diamond-Blackfan anaemia 16, MIM# 617408
Haematological malignancies v0.122 Bryony Thompson Copied gene ERG from panel Bone Marrow Failure
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 v0.121 POT1 Bryony Thompson Classified gene: POT1 as Green List (high evidence)
Haematological malignancies v0.121 POT1 Bryony Thompson Gene: pot1 has been classified as Green List (High Evidence).
Haematological malignancies v0.120 Bryony Thompson Added reviews for gene STXBP2 from panel Mendeliome
Haematological malignancies v0.119 STX11 Bryony Thompson reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: None; Publications: 26176172, 16582076; Phenotypes: hereditary hemophagocytic lymphohistiocytosis MONDO:0015541; Mode of inheritance: None
Haematological malignancies v0.119 STX11 Bryony Thompson Publications for gene: STX11 were set to 26176172; 16582076
Haematological malignancies v0.118 Bryony Thompson Added reviews for gene STX11 from panel Mendeliome
Haematological malignancies v0.117 Bryony Thompson Added reviews for gene STN1 from panel Mendeliome
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 v0.115 Bryony Thompson Added reviews for gene STAT3 from panel Mendeliome
Haematological malignancies v0.114 Bryony Thompson Copied gene SRP72 from panel Mendeliome
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 v0.113 SRP54 Bryony Thompson Marked gene: SRP54 as ready
Haematological malignancies v0.113 SRP54 Bryony Thompson Gene: srp54 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.113 SRP54 Bryony Thompson Classified gene: SRP54 as Amber List (moderate evidence)
Haematological malignancies v0.113 SRP54 Bryony Thompson Gene: srp54 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.112 SRP54 Bryony Thompson reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: None; Publications: 35846055, 35732340; Phenotypes: neutropenia, severe congenital, 8, autosomal dominant MONDO:0032899; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.112 Bryony Thompson Copied gene SRP54 from panel Mendeliome
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 v0.111 Bryony Thompson Added reviews for gene SLX4 from panel Mendeliome
Haematological malignancies v0.110 Bryony Thompson Added reviews for gene SH2D1A from panel Mendeliome
Haematological malignancies v0.109 SH2B3 Bryony Thompson Classified gene: SH2B3 as Amber List (moderate evidence)
Haematological malignancies v0.109 SH2B3 Bryony Thompson Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.108 SH2B3 Bryony Thompson Marked gene: SH2B3 as ready
Haematological malignancies v0.108 SH2B3 Bryony Thompson Gene: sh2b3 has been classified as Green List (High Evidence).
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 v0.107 SH2B3 Bryony Thompson Classified gene: SH2B3 as Green List (high evidence)
Haematological malignancies v0.107 SH2B3 Bryony Thompson Gene: sh2b3 has been classified as Green List (High Evidence).
Haematological malignancies v0.106 SH2B3 Bryony Thompson Publications for gene: SH2B3 were set to 23908464; 27913496; 39316992; 27881370; 28484264
Haematological malignancies v0.105 Bryony Thompson Added reviews for gene SH2B3 from panel Mendeliome
Haematological malignancies v0.104 Bryony Thompson Added reviews for gene SBDS from panel Mendeliome
Haematological malignancies v0.103 Bryony Thompson Added reviews for gene SAMD9L from panel Mendeliome
Haematological malignancies v0.102 Bryony Thompson Copied gene SAMD9 from panel Mendeliome
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 v0.101 Bryony Thompson Added reviews for gene RUNX1 from panel Mendeliome
Haematological malignancies v0.100 Bryony Thompson Added reviews for gene RTEL1 from panel Mendeliome
Haematological malignancies v0.99 Bryony Thompson Added reviews for gene RPS7 from panel Mendeliome
Haematological malignancies v0.98 RPS29 Bryony Thompson Marked gene: RPS29 as ready
Haematological malignancies v0.98 RPS29 Bryony Thompson Gene: rps29 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.98 RPS29 Bryony Thompson Classified gene: RPS29 as Amber List (moderate evidence)
Haematological malignancies v0.98 RPS29 Bryony Thompson Gene: rps29 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.97 Bryony Thompson Added reviews for gene RPS29 from panel Mendeliome
Haematological malignancies v0.96 Bryony Thompson Added reviews for gene RPS28 from panel Mendeliome
Haematological malignancies v0.95 RPS27A Bryony Thompson Marked gene: RPS27A as ready
Haematological malignancies v0.95 RPS27A Bryony Thompson Gene: rps27a has been classified as Red List (Low Evidence).
Haematological malignancies v0.95 RPS27A Bryony Thompson Classified gene: RPS27A as Red List (low evidence)
Haematological malignancies v0.95 RPS27A Bryony Thompson Gene: rps27a has been classified as Red List (Low Evidence).
Haematological malignancies v0.94 RPS27A Bryony Thompson reviewed gene: RPS27A: Rating: RED; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.94 RPS27 Bryony Thompson Marked gene: RPS27 as ready
Haematological malignancies v0.94 RPS27 Bryony Thompson Gene: rps27 has been classified as Red List (Low Evidence).
Haematological malignancies v0.94 RPS27 Bryony Thompson Classified gene: RPS27 as Red List (low evidence)
Haematological malignancies v0.94 RPS27 Bryony Thompson Gene: rps27 has been classified as Red List (Low Evidence).
Haematological malignancies v0.93 Bryony Thompson Added reviews for gene RPS27 from panel Mendeliome
Haematological malignancies v0.92 Bryony Thompson Added reviews for gene RPS26 from panel Mendeliome
Haematological malignancies v0.91 Bryony Thompson Added reviews for gene RPS24 from panel Mendeliome
Haematological malignancies v0.90 Bryony Thompson Copied gene RPS20 from panel Mendeliome
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 v0.89 Bryony Thompson Added reviews for gene RPS19 from panel Mendeliome
Haematological malignancies v0.88 Bryony Thompson Added reviews for gene RPS17 from panel Mendeliome
Haematological malignancies v0.87 Bryony Thompson Copied gene RPS15A from panel Mendeliome
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 v0.86 Bryony Thompson Added reviews for gene RPS15 from panel Mendeliome
Haematological malignancies v0.85 Bryony Thompson Added reviews for gene RPS10 from panel Mendeliome
Haematological malignancies v0.84 Bryony Thompson Copied gene RPL9 from panel Mendeliome
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 Bryony Thompson Copied gene RPL8 from panel Mendeliome
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 v0.82 Bryony Thompson Added reviews for gene RPL5 from panel Mendeliome
Haematological malignancies v0.81 RPL36 Bryony Thompson Marked gene: RPL36 as ready
Haematological malignancies v0.81 RPL36 Bryony Thompson Gene: rpl36 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.81 RPL36 Bryony Thompson Phenotypes for gene: RPL36 were changed from Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR) to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR); Diamond-Blackfan anemia MONDO:0015253
Haematological malignancies v0.80 RPL36 Bryony Thompson Publications for gene: RPL36 were set to 28297620
Haematological malignancies v0.79 RPL36 Bryony Thompson Classified gene: RPL36 as Amber List (moderate evidence)
Haematological malignancies v0.79 RPL36 Bryony Thompson Gene: rpl36 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.78 RPL36 Bryony Thompson reviewed gene: RPL36: Rating: AMBER; Mode of pathogenicity: None; Publications: 19061985, 39923319; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.78 MDM4 Zornitza Stark Marked gene: MDM4 as ready
Haematological malignancies v0.78 MDM4 Zornitza Stark Gene: mdm4 has been classified as Green List (High Evidence).
Haematological malignancies v0.78 MDM4 Zornitza Stark Phenotypes for gene: MDM4 were changed from bone marrow failure syndrome MONDO:0000159, MDM4-related to bone marrow failure syndrome 6, MONDO:0030015
Haematological malignancies v0.77 MDM4 Zornitza Stark Publications for gene: MDM4 were set to 32300648; 33104793
Haematological malignancies v0.76 MDM4 Zornitza Stark Classified gene: MDM4 as Green List (high evidence)
Haematological malignancies v0.76 MDM4 Zornitza Stark Gene: mdm4 has been classified as Green List (High Evidence).
Haematological malignancies v0.75 MDM4 Zornitza Stark reviewed gene: MDM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 41758987; Phenotypes: bone marrow failure syndrome 6, MONDO:0030015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.75 RPL35A Bryony Thompson Marked gene: RPL35A as ready
Haematological malignancies v0.75 RPL35A Bryony Thompson Gene: rpl35a has been classified as Green List (High Evidence).
Haematological malignancies v0.75 Bryony Thompson Added reviews for gene RPL35A from panel Mendeliome
Haematological malignancies v0.74 Bryony Thompson Copied gene RPL35 from panel Mendeliome
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 v0.73 RPL31 Bryony Thompson Publications for gene: RPL31 were set to 28297620
Haematological malignancies v0.72 RPL31 Bryony Thompson Classified gene: RPL31 as Amber List (moderate evidence)
Haematological malignancies v0.72 RPL31 Bryony Thompson Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.71 Bryony Thompson Added reviews for gene RPL31 from panel Mendeliome
Haematological malignancies v0.70 Bryony Thompson Added reviews for gene RPL27 from panel Mendeliome
Haematological malignancies v0.69 RPL26 Bryony Thompson Classified gene: RPL26 as Red List (low evidence)
Haematological malignancies v0.69 RPL26 Bryony Thompson Gene: rpl26 has been classified as Red List (Low Evidence).
Haematological malignancies v0.68 RPL26 Bryony Thompson reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.68 RPL26 Bryony Thompson Publications for gene: RPL26 were set to 28297620
Haematological malignancies v0.67 RPL26 Bryony Thompson Marked gene: RPL26 as ready
Haematological malignancies v0.67 RPL26 Bryony Thompson Gene: rpl26 has been classified as Green List (High Evidence).
Haematological malignancies v0.67 Bryony Thompson Added reviews for gene RPL26 from panel Mendeliome
Haematological malignancies v0.66 RPL23 Bryony Thompson Marked gene: RPL23 as ready
Haematological malignancies v0.66 RPL23 Bryony Thompson Gene: rpl23 has been classified as Red List (Low Evidence).
Haematological malignancies v0.66 RPL23 Bryony Thompson Classified gene: RPL23 as Red List (low evidence)
Haematological malignancies v0.66 RPL23 Bryony Thompson Gene: rpl23 has been classified as Red List (Low Evidence).
Haematological malignancies v0.65 RPL23 Bryony Thompson reviewed gene: RPL23: Rating: RED; Mode of pathogenicity: None; Publications: 19191325; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: Unknown
Haematological malignancies v0.65 RPL15 Bryony Thompson Marked gene: RPL15 as ready
Haematological malignancies v0.65 RPL15 Bryony Thompson Gene: rpl15 has been classified as Green List (High Evidence).
Haematological malignancies v0.65 Bryony Thompson Added reviews for gene RPL15 from panel Mendeliome
Haematological malignancies v0.64 RPL11 Bryony Thompson Marked gene: RPL11 as ready
Haematological malignancies v0.64 RPL11 Bryony Thompson Gene: rpl11 has been classified as Green List (High Evidence).
Haematological malignancies v0.64 Bryony Thompson Added reviews for gene RPL11 from panel Mendeliome
Haematological malignancies v0.63 Bryony Thompson Added reviews for gene RMRP from panel Mendeliome
Haematological malignancies v0.62 Bryony Thompson Added reviews for gene RAD51C from panel Bone Marrow Failure
Haematological malignancies v0.61 RAD51 Bryony Thompson reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: None; Publications: 26681308, 26253028, 30907510, 36698515; Phenotypes: Fanconi anaemia, complementation group R, MIM# 617244; Mode of inheritance: None
Haematological malignancies v0.61 RAD51 Bryony Thompson Publications for gene: RAD51 were set to 26681308; 26253028; 30907510
Haematological malignancies v0.60 Bryony Thompson Added reviews for gene RAD51 from panel Chromosome Breakage Disorders
Haematological malignancies v0.59 RAD21 Bryony Thompson Marked gene: RAD21 as ready
Haematological malignancies v0.59 RAD21 Bryony Thompson Gene: rad21 has been classified as Green List (High Evidence).
Haematological malignancies v0.59 RAD21 Bryony Thompson edited their review of gene: RAD21: Changed phenotypes: precursor lymphoblastic lymphoma/leukemia MONDO:0003538
Haematological malignancies v0.59 RAD21 Bryony Thompson reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 35563565; Phenotypes: precursor lymphoblastic lymphoma/leukemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.59 PTPN11 Bryony Thompson Marked gene: PTPN11 as ready
Haematological malignancies v0.59 PTPN11 Bryony Thompson Gene: ptpn11 has been classified as Green List (High Evidence).
Haematological malignancies v0.59 Bryony Thompson Added reviews for gene PTPN11 from panel Mendeliome
Haematological malignancies v0.58 PRF1 Bryony Thompson Marked gene: PRF1 as ready
Haematological malignancies v0.58 PRF1 Bryony Thompson Gene: prf1 has been classified as Green List (High Evidence).
Haematological malignancies v0.58 Bryony Thompson Added reviews for gene PRF1 from panel Mendeliome
Haematological malignancies v0.57 Bryony Thompson Added reviews for gene POT1 from panel Bone Marrow Failure
Haematological malignancies v0.56 PMS2 Bryony Thompson Marked gene: PMS2 as ready
Haematological malignancies v0.56 PMS2 Bryony Thompson Gene: pms2 has been classified as Green List (High Evidence).
Haematological malignancies v0.56 PMS2 Bryony Thompson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17851451, 25883011, 18376293; Phenotypes: Mismatch repair cancer syndrome 4, MONDO:0030843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Haematological malignancies v0.56 PAX5 Bryony Thompson Marked gene: PAX5 as ready
Haematological malignancies v0.56 PAX5 Bryony Thompson Gene: pax5 has been classified as Green List (High Evidence).
Haematological malignancies v0.56 Bryony Thompson Added reviews for gene PAX5 from panel Cancer Predisposition_Paediatric
Haematological malignancies v0.55 PARN Bryony Thompson Marked gene: PARN as ready
Haematological malignancies v0.55 PARN Bryony Thompson Gene: parn has been classified as Green List (High Evidence).
Haematological malignancies v0.55 Bryony Thompson Added reviews for gene PARN from panel Mendeliome
Haematological malignancies v0.54 PALB2 Bryony Thompson Marked gene: PALB2 as ready
Haematological malignancies v0.54 PALB2 Bryony Thompson Gene: palb2 has been classified as Green List (High Evidence).
Haematological malignancies v0.54 Bryony Thompson Added reviews for gene PALB2 from panel Bone Marrow Failure
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 v0.51 Bryony Thompson Panel name changed from Haematological malignancies cancer susceptibility to Haematological malignancies
Haematological malignancies v0.50 NOP10 Bryony Thompson Classified gene: NOP10 as Amber List (moderate evidence)
Haematological malignancies v0.50 NOP10 Bryony Thompson Gene: nop10 has been classified as Amber List (Moderate Evidence).
Haematological malignancies v0.49 Bryony Thompson Added reviews for gene NOP10 from panel Mendeliome
Haematological malignancies v0.48 NHP2 Bryony Thompson Marked gene: NHP2 as ready
Haematological malignancies v0.48 NHP2 Bryony Thompson Gene: nhp2 has been classified as Green List (High Evidence).
Haematological malignancies v0.48 Bryony Thompson Added reviews for gene NHP2 from panel Mendeliome
Haematological malignancies v0.47 NF1 Bryony Thompson Marked gene: NF1 as ready
Haematological malignancies v0.47 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Haematological malignancies v0.47 Bryony Thompson Added reviews for gene NF1 from panel Mendeliome
Haematological malignancies v0.46 NBN Bryony Thompson Marked gene: NBN as ready
Haematological malignancies v0.46 NBN Bryony Thompson Gene: nbn has been classified as Green List (High Evidence).
Haematological malignancies v0.46 Bryony Thompson Added reviews for gene NBN from panel Mendeliome
Haematological malignancies v0.45 NAF1 Bryony Thompson Marked gene: NAF1 as ready
Haematological malignancies v0.45 NAF1 Bryony Thompson Gene: naf1 has been classified as Green List (High Evidence).
Haematological malignancies v0.45 Bryony Thompson Added reviews for gene NAF1 from panel Mendeliome
Haematological malignancies v0.44 MSH6 Bryony Thompson Marked gene: MSH6 as ready
Haematological malignancies v0.44 MSH6 Bryony Thompson Gene: msh6 has been classified as Green List (High Evidence).
Haematological malignancies v0.44 MSH6 Bryony Thompson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25883011, 16418736, 20015892; Phenotypes: Mismatch repair cancer syndrome 3, MONDO:0030841; Mode of inheritance: None
Haematological malignancies v0.44 MSH2 Bryony Thompson Marked gene: MSH2 as ready
Haematological malignancies v0.44 MSH2 Bryony Thompson Gene: msh2 has been classified as Green List (High Evidence).
Haematological malignancies v0.44 MSH2 Bryony Thompson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25883011, 40734770; Phenotypes: Mismatch repair cancer syndrome 2, MONDO:0030840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies v0.44 MLH1 Bryony Thompson Marked gene: MLH1 as ready
Haematological malignancies v0.44 MLH1 Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence).
Haematological malignancies v0.44 MLH1 Bryony Thompson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30275527, 9927033, 25883011; Phenotypes: Mismatch repair cancer syndrome 1, MONDO:0010159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Haematological malignancies v0.44 Bryony Thompson Copied gene MDM4 from panel Mendeliome
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 v0.43 Bryony Thompson Added reviews for gene MBD4 from panel Bone Marrow Failure
Haematological malignancies v0.42 MAD2L2 Bryony Thompson Marked gene: MAD2L2 as ready
Haematological malignancies v0.42 MAD2L2 Bryony Thompson Gene: mad2l2 has been classified as Red List (Low Evidence).
Haematological malignancies v0.42 MAD2L2 Bryony Thompson Classified gene: MAD2L2 as Red List (low evidence)
Haematological malignancies v0.42 MAD2L2 Bryony Thompson Gene: mad2l2 has been classified as Red List (Low Evidence).
Haematological malignancies v0.41 Bryony Thompson Added reviews for gene MAD2L2 from panel Mendeliome
Haematological malignancies v0.40 Bryony Thompson Added reviews for gene LIG4 from panel Mendeliome
Haematological malignancies v0.39 Bryony Thompson Added reviews for gene ITK from panel Mendeliome
Haematological malignancies v0.38 Bryony Thompson Added reviews for gene IKZF1 from panel Mendeliome
Haematological malignancies v0.37 Bryony Thompson Added reviews for gene HAX1 from panel Mendeliome
Haematological malignancies v0.36 Bryony Thompson Added reviews for gene GBA from panel Lysosomal Storage Disorder
Haematological malignancies v0.35 Bryony Thompson Added reviews for gene GATA2 from panel Mendeliome
Haematological malignancies v0.34 Bryony Thompson Copied gene FASLG from panel Mendeliome
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 v0.33 Bryony Thompson Added reviews for gene GATA1 from panel Mendeliome
Haematological malignancies v0.32 Bryony Thompson Added reviews for gene FAS from panel Mendeliome
Haematological malignancies v0.31 FANCM Bryony Thompson Marked gene: FANCM as ready
Haematological malignancies v0.31 FANCM Bryony Thompson Gene: fancm has been classified as Red List (Low Evidence).
Haematological malignancies v0.31 FANCM Bryony Thompson Classified gene: FANCM as Red List (low evidence)
Haematological malignancies v0.31 FANCM Bryony Thompson Gene: fancm has been classified as Red List (Low Evidence).
Haematological malignancies v0.30 Bryony Thompson Added reviews for gene FANCM from panel Bone Marrow Failure
Haematological malignancies v0.29 Bryony Thompson Added reviews for gene FANCL from panel Mendeliome
Haematological malignancies v0.28 Bryony Thompson Added reviews for gene FANCI from panel Mendeliome
Haematological malignancies v0.27 Bryony Thompson Added reviews for gene FANCG from panel Mendeliome
Haematological malignancies v0.26 Bryony Thompson Added reviews for gene FANCF from panel Mendeliome
Haematological malignancies v0.25 Bryony Thompson Added reviews for gene FANCE from panel Mendeliome
Haematological malignancies v0.24 Bryony Thompson Added reviews for gene FANCD2 from panel Mendeliome
Haematological malignancies v0.23 Bryony Thompson Added reviews for gene FANCC from panel Mendeliome
Haematological malignancies v0.22 Bryony Thompson Added reviews for gene FANCB from panel Mendeliome
Haematological malignancies v0.21 Bryony Thompson Added reviews for gene FANCA from panel Mendeliome
Haematological malignancies v0.20 Bryony Thompson Added reviews for gene ETV6 from panel Mendeliome
Haematological malignancies v0.19 Bryony Thompson Added reviews for gene ERCC6L2 from panel Mendeliome
Haematological malignancies v0.18 Bryony Thompson Added reviews for gene ERCC4 from panel Mendeliome
Haematological malignancies v0.17 Bryony Thompson Added reviews for gene ELANE from panel Mendeliome
Haematological malignancies v0.16 Bryony Thompson Added reviews for gene DOCK8 from panel Mendeliome
Haematological malignancies v0.15 Bryony Thompson Added reviews for gene DNAJC21 from panel Mendeliome
Haematological malignancies v0.14 Bryony Thompson Added reviews for gene DKC1 from panel Mendeliome
Haematological malignancies v0.13 Bryony Thompson Added reviews for gene DDX41 from panel Bone Marrow Failure
Haematological malignancies v0.12 Bryony Thompson Added reviews for gene CTC1 from panel Bone Marrow Failure
Haematological malignancies v0.11 Bryony Thompson Added reviews for gene CEBPA from panel Mendeliome
Haematological malignancies v0.10 Bryony Thompson Copied gene CD70 from panel Mendeliome
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 Bryony Thompson Copied gene CD27 from panel Mendeliome
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 v0.8 Bryony Thompson Added reviews for gene CBL from panel Mendeliome
Haematological malignancies v0.7 Bryony Thompson Added reviews for gene BRIP1 from panel Mendeliome
Haematological malignancies v0.6 Bryony Thompson Added reviews for gene BRCA2 from panel Bone Marrow Failure
Haematological malignancies v0.5 Bryony Thompson Added reviews for gene BRCA1 from panel Bone Marrow Failure
Haematological malignancies v0.4 Bryony Thompson Added reviews for gene BLM from panel Mendeliome
Haematological malignancies v0.3 Bryony Thompson Added reviews for gene ATM from panel Mendeliome
Haematological malignancies v0.2 Bryony Thompson Added reviews for gene ANKRD26 from panel Bone Marrow Failure
Haematological malignancies v0.1 Bryony Thompson Added reviews for gene ACD from panel Mendeliome
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
Haematological malignancies v0.0 Bryony Thompson Added panel Haematological malignancies cancer susceptibility