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Haematological malignancies for rare disease v1.18 SH2B3 Dmitrijs Rots reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37206266; Phenotypes: myeloproliferation and multi‐organ autoimmunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies for rare disease v1.18 RMRP Sarah Leigh commented on gene: RMRP
Haematological malignancies for rare disease v1.18 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Haematological malignancies for rare disease v1.18 LIG4 Arina Puzriakova Phenotypes for gene: LIG4 were changed from Class: miscellaneous; Ligase IV syndrome; Lymphoma; ALL to LIG4 syndrome, OMIM:606593; Class: miscellaneous; Ligase IV syndrome; Lymphoma; ALL
Haematological malignancies for rare disease v1.17 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas to Bloom syndrome, OMIM:210900; Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas
Haematological malignancies for rare disease v1.16 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Haematological malignancies for rare disease v1.15 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from Class: BM failure syndrome (typ AR); Dyskeratosis congenita; MDS, AML; Bone marrow failure, macrocytosis; Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Haematological malignancies for rare disease v1.14 RPS15 Arina Puzriakova Tag somatic tag was added to gene: RPS15.
Haematological malignancies for rare disease v1.14 RPS15 Arina Puzriakova Phenotypes for gene: RPS15 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML; Osteosarcoma, soft tissue sarcomas to Diamond-Blackfan anemia; Chronic lymphocytic leukemia
Haematological malignancies for rare disease v1.13 RPS15 Arina Puzriakova Publications for gene: RPS15 were set to 28297620
Haematological malignancies for rare disease v1.12 RPS15 Arina Puzriakova Tag watchlist tag was added to gene: RPS15.
Haematological malignancies for rare disease v1.12 RPS15 Arina Puzriakova reviewed gene: RPS15: Rating: ; Mode of pathogenicity: None; Publications: 19061985, 26466571, 26675346, 30181176, 34251413; Phenotypes: Diamond-Blackfan anemia, Chronic lymphocytic leukemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies for rare disease v1.12 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1..
Haematological malignancies for rare disease v1.12 GBA Sarah Leigh commented on gene: GBA
Haematological malignancies for rare disease v1.12 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Haematological malignancies for rare disease v1.12 RPS15 Dmitrijs Rots reviewed gene: RPS15: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28297620, 19061985; Phenotypes: ; Mode of inheritance: None
Haematological malignancies for rare disease v1.12 RPS15 Eleanor Williams Tag gene-checked tag was added to gene: RPS15.
Haematological malignancies for rare disease v1.12 RPS15 Eleanor Williams commented on gene: RPS15
Haematological malignancies for rare disease v1.12 RPS27A Eleanor Williams Tag gene-checked tag was added to gene: RPS27A.
Haematological malignancies for rare disease v1.12 RPL31 Eleanor Williams Tag gene-checked tag was added to gene: RPL31.
Haematological malignancies for rare disease v1.12 RPL23 Eleanor Williams Tag gene-checked tag was added to gene: RPL23.
Haematological malignancies for rare disease v1.12 RPL36 Eleanor Williams Tag gene-checked tag was added to gene: RPL36.
Haematological malignancies for rare disease v1.12 NAF1 Eleanor Williams Publications for gene: NAF1 were set to 28297620
Haematological malignancies for rare disease v1.11 NAF1 Eleanor Williams Tag new-gene-name was removed from gene: NAF1.
Tag gene-checked tag was added to gene: NAF1.
Haematological malignancies for rare disease v1.11 NAF1 Eleanor Williams commented on gene: NAF1
Haematological malignancies for rare disease v1.11 PARN Arina Puzriakova Phenotypes for gene: PARN were changed from Class: BM failure syndrome (typ AR); Dyskeratosis congenita; MDS, AML; Oral and GI squamous cell carcinoma to Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Haematological malignancies for rare disease v1.10 BRIP1 Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: "Class: BM failure FA, (typ AR);AML; leukaemia; breast;Fanconi anaemia J; breast cancer susceptiblity;MDS; Leukaemia;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma oral, GI, vulvar"
Haematological malignancies for rare disease v1.10 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Class: BM failure FA, (typ AR); AML; leukaemia; breast; Fanconi anaemia J; breast cancer susceptiblity; MDS; Leukaemia; Bone marrow failure; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma oral, GI, vulvar to Fanconi anemia, complementation group J, OMIM:609054
Haematological malignancies for rare disease v1.9 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Class: BM failure FA, (typ AR); Fanconi anemia; breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1); hereditary breast, ovarian cancer; MDS; AML, Leukaemia; Bone marrow failure; Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer ,Squamous cell carcinoma: oral, GI, vulvar to Fanconi anemia, complementation group D1, OMIM:605724
Haematological malignancies for rare disease v1.8 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Class: BM failure FA, (typ AR); Fanconi anemia; MDS; AML; Squamous cell carcinoma: oral, GI, vulvar to Fanconi anemia, complementation group S, OMIM:617883
Haematological malignancies for rare disease v1.7 NAF1 Arina Puzriakova commented on gene: NAF1
Haematological malignancies for rare disease v1.7 NAF1 Arina Puzriakova Tag new-gene-name tag was added to gene: NAF1.
Haematological malignancies for rare disease v1.7 RAD51 Arina Puzriakova Publications for gene: RAD51 were set to 28297620
Haematological malignancies for rare disease v1.6 RAD51 Arina Puzriakova edited their review of gene: RAD51: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease v1.6 RAD51 Arina Puzriakova reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: None; Publications: 26681308, 26253028, 30907510; Phenotypes: Fanconi anemia, complementation group R, OMIM:617244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies for rare disease v1.6 RAD51 Arina Puzriakova Phenotypes for gene: RAD51 were changed from Class: BM failure FA, (typ AR); Fanconi anemia; MDS; AML; Squamous cell carcinoma: oral, GI, vulvar to Fanconi anemia, complementation group R, OMIM:617244
Haematological malignancies for rare disease v1.5 RPS27 Arina Puzriakova Phenotypes for gene: RPS27 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML; Osteosarcoma, soft tissue sarcomas to ?Diamond-Blackfan anemia 17, OMIM:617409; Class: BM failure syndrome (typ AR); MDS, AML; Osteosarcoma, soft tissue sarcomas
Haematological malignancies for rare disease v1.4 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Class: BM failure syndrome (typ AR); Ataxia telangiectasia; leukaemia; lymphoma; medulloblastoma; glioma; ataxia-telangiectasia; Lymphoma, ALL (particularly T-ALL); Leukaemia to Ataxia-telangiectasia, OMIM:208900; T-cell prolymphocytic leukemia, somatic
Haematological malignancies for rare disease v1.3 ACD Ivone Leong Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Haematological malignancies for rare disease v1.2 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from Class: BM failure syndrome (typ AR); Dyskeratosis congenita; MDS, AML; Oral and GI squamous cell carcinoma to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553; MDS, AML; Oral and GI squamous cell carcinoma
Haematological malignancies for rare disease v1.1 RAD51 Zornitza Stark reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 30907510; Phenotypes: Fanconi anemia, complementation group R 617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies for rare disease Ellen McDonagh promoted panel to version 1.0
Haematological malignancies for rare disease RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Haematological malignancies for rare disease FANCM Ellen McDonagh classified FANCM as Amber List (moderate evidence)
Haematological malignancies for rare disease FANCM Ellen McDonagh classified FANCM as Red List (low evidence)
Haematological malignancies for rare disease WAS Ellen McDonagh commented on WAS
Haematological malignancies for rare disease TERC Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RMRP Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease SH2B3 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RAD51 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease XRCC2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease WRAP53 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease WAS Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease UBE2T Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease TSR2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease TP53 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease TINF2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease TERT Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease STN1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease STAT3 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease SLX4 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease SH2D1A Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease SBDS Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease SAMD9L Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RUNX1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RTEL1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS7 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS29 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS28 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS27A Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS27 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS26 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS24 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS19 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS17 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS15 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPS10 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL5 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL36 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL35A Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL31 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL27 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL26 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL23 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL15 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RPL11 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease RAD51C Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PTPN11 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PRF1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PMS2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PAX5 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PARN Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease PALB2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease NOP10 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease NHP2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease NF1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease NBN Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease NAF1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease MSH6 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease MSH2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease MLH1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease MAD2L2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease LIG4 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ITK Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease HAX1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease GBA Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease GATA2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease GATA1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FAS Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCM Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCL Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCI Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCG Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCF Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCE Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCD2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCC Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCB Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease FANCA Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ETV6 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ERCC4 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ELANE Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease DOCK8 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease DKC1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease DDX41 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease CTC1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease CEBPA Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease CBL Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease BRIP1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease BRCA2 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease BRCA1 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease BLM Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ATM Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ANKRD26 Ellen McDonagh Added gene to panel
Haematological malignancies for rare disease ACD Ellen McDonagh Added gene to panel