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| Haematological malignancies cancer susceptibility v4.5 | LIG4 | Arina Puzriakova Phenotypes for gene: LIG4 were changed from Class: miscellaneous; Ligase IV syndrome; Lymphoma; ALL to LIG4 syndrome, OMIM:606593; Ligase IV syndrome; Lymphoma; ALL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.4 | POT1 | Lauma Freimane reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.4 | POT1 |
Lauma Freimane gene: POT1 was added gene: POT1 was added to Haematological malignancies cancer susceptibility. Sources: Expert Review Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to PMID: 36467798; 30213928 Phenotypes for gene: POT1 were set to Multiple myeloma Penetrance for gene: POT1 were set to unknown gene: POT1 was marked as current diagnostic |
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| Haematological malignancies cancer susceptibility v4.4 | KDM1A |
Lauma Freimane gene: KDM1A was added gene: KDM1A was added to Haematological malignancies cancer susceptibility. Sources: Expert list Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM1A were set to 29559475 Phenotypes for gene: KDM1A were set to Multiple myeloma Review for gene: KDM1A was set to GREEN gene: KDM1A was marked as current diagnostic Added comment: KDM1A is the first autosomal dominant MM germline predisposition gene, providing new insights into its mechanistic roles as a tumor suppressor during post-germinal center B cell differentiation (PMID: 29559475). Sources: Expert list |
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| Haematological malignancies cancer susceptibility v4.2 | PTPN13 |
Dmitrijs Rots gene: PTPN13 was added gene: PTPN13 was added to Haematological malignancies cancer susceptibility. Sources: Literature 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 Review for gene: PTPN13 was set to AMBER Added comment: PMID: 35643866 described two families with biallelic PTPN13 and bone marrow failure and acute lymphoblastic leukemia and some functional evidence. In gnomAD (under variant co-occurence) no rare truncating and strong missense in comp het or homozygous states. Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | NAPRT |
Lauma Freimane gene: NAPRT was added gene: NAPRT was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: NAPRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPRT were set to 32098966 Phenotypes for gene: NAPRT were set to MDS/AML; inherited bone marrow failure series Review for gene: NAPRT was set to GREEN Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | DNAH9 |
Lauma Freimane gene: DNAH9 was added gene: DNAH9 was added to Haematological malignancies cancer susceptibility. Sources: Literature 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) Review for gene: DNAH9 was set to GREEN Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | ADA |
Lauma Freimane gene: ADA was added gene: ADA was added to Haematological malignancies cancer susceptibility. Sources: Literature 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 Added comment: A causative factor of T cell-negative, B cell-negative, natural killer cell-negative severe combined immunodeficiency. Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | DHX34 |
Lauma Freimane gene: DHX34 was added gene: DHX34 was added to Haematological malignancies cancer susceptibility. Sources: Literature 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 Thrombocytopenia; Neutropenia; Pancytopenia; AML Penetrance for gene: DHX34 were set to Complete Review for gene: DHX34 was set to GREEN Added comment: PMID: 32098966 - "[..] functionally validated heterozygous variants in the RNA helicase DHX34, detected in four families, all of which impacted activity of the NMD (nonsense-mediated mRNA decay) pathway. [..]" Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | SH2B3 | Lauma Freimane reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.2 | TCF3 |
Lauma Freimane gene: TCF3 was added gene: TCF3 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: TCF3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TCF3 were set to 36576946 Phenotypes for gene: TCF3 were set to B-cell acute lymphoblastic leukemia Penetrance for gene: TCF3 were set to unknown Review for gene: TCF3 was set to GREEN gene: TCF3 was marked as current diagnostic Added comment: Autors hypothesize that variants in TCF3 gene alter B-cell maturation which may increase the risk for preleukemic clone emergence (PMID: 36576946). Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.2 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.1 | Catherine Snow Panel version 4.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.0 | Catherine Snow promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.3 | RAD21 |
Arina Puzriakova Tag Q4_22_promote_green was removed from gene: RAD21. Tag Q4_22_expert_review was removed from gene: RAD21. |
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| Haematological malignancies cancer susceptibility v3.3 | MBD4 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: MBD4. Tag Q3_22_expert_review was removed from gene: MBD4. |
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| Haematological malignancies cancer susceptibility v3.3 | RPS15 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: RPS15. Tag Q3_22_expert_review was removed from gene: RPS15. |
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| Haematological malignancies cancer susceptibility v3.3 | RPL27 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: RPL27. Tag Q3_22_expert_review was removed from gene: RPL27. |
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| Haematological malignancies cancer susceptibility v3.3 | ERCC6L2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: ERCC6L2. Tag Q2_22_NHS_review was removed from gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v3.3 | RAD21 | Arina Puzriakova edited their review of gene: RAD21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.3 | MBD4 | Arina Puzriakova edited their review of gene: MBD4: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.3 | RPS15 | Arina Puzriakova edited their review of gene: RPS15: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.3 | RPL27 | Arina Puzriakova reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.3 | ERCC6L2 | Arina Puzriakova reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.2 | RPS15 |
Arina Puzriakova Source NHS GMS was added to RPS15. Source Expert Review Red was added to RPS15. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Haematological malignancies cancer susceptibility v3.2 | RPL27 |
Arina Puzriakova Source NHS GMS was added to RPL27. Source Expert Review Red was added to RPL27. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Haematological malignancies cancer susceptibility v3.2 | RAD21 |
Arina Puzriakova Source Expert Review Green was added to RAD21. Source NHS GMS was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v3.2 | MBD4 |
Arina Puzriakova Source Expert Review Green was added to MBD4. Source NHS GMS was added to MBD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v3.2 | ERCC6L2 |
Arina Puzriakova Source Expert Review Green was added to ERCC6L2. Source NHS GMS was added to ERCC6L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.39 | 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; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.38 | MBD4 |
Arina Puzriakova changed review comment from: Re-tagging on this panel following a separate Green expert review on a different GMS panel (R347, R211) to ensure that if the decision is made to include the gene, all panels are appropriately updated.; to: Re-tagging on this panel following a new Green expert review by Dr Claire Palles on a different GMS panel (R347, R211) to ensure that if the decision is made to include the gene, all panels are appropriately updated. Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-known cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. |
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| Haematological malignancies cancer susceptibility v2.38 | RAD21 | Arina Puzriakova Tag missense tag was added to gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.38 | RAD21 | Arina Puzriakova Mode of pathogenicity for gene: RAD21 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.37 | RAD21 |
Arina Puzriakova Tag Q4_22_promote_green tag was added to gene: RAD21. Tag Q4_22_expert_review tag was added to gene: RAD21. |
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| Haematological malignancies cancer susceptibility v2.37 | RAD21 | Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.37 | RAD21 |
Arina Puzriakova Added comment: Comment on list classification: RAD21 will be flagged for expert review at the next GMS panel update to determine whether there is enough evidence to classify this gene as Green. Somatic variants have been found in multiple AML cohorts (PMID: 34157074); however, only one recurrent germline variant (c.892C>T/G, p.P298S/A) was found in three unrelated children with lymphoblastic leukemia or lymphoma (PMID:35563565). The same variant was also found in an adult patient with a solid tumour (malignant peripheral nerve sheath tumour). Functional studies showed the variant disrupted RAD21 gene expression and DNA damage response but did not perturb formation of the cohesin complex. Notably 2/3 patients harboured known pathogenic somatic KRAS hot-spot variants. Heterozygous variants in the RAD21 gene are also associated with Cornelia-de-Lange syndrome (MIM# 614701) which is not known to confer cancer predisposition. |
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| Haematological malignancies cancer susceptibility v2.37 | RAD21 | Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.36 | RPL27 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: RPL27. Tag Q3_22_expert_review tag was added to gene: RPL27. |
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| Haematological malignancies cancer susceptibility v2.36 | RPL27 | Eleanor Williams commented on gene: RPL27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.36 | MBD4 | Eleanor Williams Tag Q3_22_rating tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.36 | RPS15 |
Arina Puzriakova commented on gene: RPS15: This gene has been flagged for GMS expert review as published evidence linking germline variants to haematological malignancies is limited, which may warrant a rating downgrade from Green, subject to review. RPS15 somatic variants are enriched within chronic lymphocytic leukemia, particularly in aggressive cases - however, the contribution of germline variants is not well-defined. |
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| Haematological malignancies cancer susceptibility v2.36 | RPS15 | Arina Puzriakova Tag somatic tag was added to gene: RPS15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.36 | RPS15 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: RPS15. Tag Q3_22_expert_review tag was added to gene: RPS15. |
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| Haematological malignancies cancer susceptibility v2.36 | 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 cancer susceptibility v2.35 | RPS15 | Arina Puzriakova Publications for gene: RPS15 were set to 28297620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.34 | 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 cancer susceptibility v2.34 | RAD21 |
Dmitrijs Rots gene: RAD21 was added gene: RAD21 was added to Haematological malignancies cancer susceptibility. Sources: Literature 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 Penetrance for gene: RAD21 were set to Incomplete Mode of pathogenicity for gene: RAD21 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAD21 was set to GREEN Added comment: >3 cases reported with recurrent RAD21 missense variant with lymphocytic malignancy (ALL or LBL) without CdLS features + functional evidence in 35563565. Sufficient for green rating. Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.34 | MBD4 | Arina Puzriakova Phenotypes for gene: MBD4 were changed from AML, colonic polyps, uveal melanoma, glioblastoma to Multi-organ tumour predisposition syndrome; Adenomatous colorectal polyposis; Colorectal cancer; Acute myeloid leukemia; Uveal melanoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | MBD4 | Arina Puzriakova Tag Q3_22_expert_review tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | MBD4 | Arina Puzriakova commented on gene: MBD4: Re-tagging on this panel following a separate Green expert review on a different GMS panel (R347, R211) to ensure that if the decision is made to include the gene, all panels are appropriately updated. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | MBD4 | Arina Puzriakova changed review comment from: Palles et al. 2022 (PMID: 35460607) reported on 5 individuals from 4 families with biallelic MBD4 variants who had a personal and/or family history of adenomatous colorectal polyposis (5/5), AML (1/5 personal, 2/5 family), and uveal melanoma (2/5 personal). Consistent with previous studies, MBD4-deficient colorectal adenomas showed a significantly increased mutational burden compared to sporadic colorectal tumours, which were mostly attributable to an excess of CpG>TpG transitions.; to: Palles et al. 2022 (PMID: 35460607) reported on 5 individuals from 4 families with biallelic MBD4 variants who had a personal and/or family history of adenomatous colorectal polyposis (5/5), AML (1/5 personal, 2 family), and uveal melanoma (2/5 personal). Consistent with previous studies, MBD4-deficient colorectal adenomas showed a significantly increased mutational burden compared to sporadic colorectal tumours, which were mostly attributable to an excess of CpG>TpG transitions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | MBD4 | Arina Puzriakova changed review comment from: Palles et al. 2022 (PMID: 35460607) reported on 5 individuals from 4 families with biallelic MBD4 variants who had a personal and/or family history of adenomatous colorectal polyposis (5/5), AML (1/5 personal), and uveal melanoma (2/5 personal). Consistent with previous studies, MBD4-deficient colorectal adenomas showed a significantly increased mutational burden compared to sporadic colorectal tumours, which were mostly attributable to an excess of CpG>TpG transitions.; to: Palles et al. 2022 (PMID: 35460607) reported on 5 individuals from 4 families with biallelic MBD4 variants who had a personal and/or family history of adenomatous colorectal polyposis (5/5), AML (1/5 personal, 2/5 family), and uveal melanoma (2/5 personal). Consistent with previous studies, MBD4-deficient colorectal adenomas showed a significantly increased mutational burden compared to sporadic colorectal tumours, which were mostly attributable to an excess of CpG>TpG transitions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | MBD4 | Arina Puzriakova edited their review of gene: MBD4: Added comment: Palles et al. 2022 (PMID: 35460607) reported on 5 individuals from 4 families with biallelic MBD4 variants who had a personal and/or family history of adenomatous colorectal polyposis (5/5), AML (1/5 personal), and uveal melanoma (2/5 personal). Consistent with previous studies, MBD4-deficient colorectal adenomas showed a significantly increased mutational burden compared to sporadic colorectal tumours, which were mostly attributable to an excess of CpG>TpG transitions.; Changed publications to: 12417741, 30049810, 32239153, 35460607; Changed phenotypes to: Multi-organ tumour predisposition syndrome, Adenomatous colorectal polyposis, Colorectal cancer, Acute myeloid leukemia, Uveal melanoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | 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 cancer susceptibility v2.33 | GBA | Sarah Leigh Tag new-gene-name tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | GBA | Sarah Leigh commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 | Eleanor Williams commented on gene: ERCC6L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 |
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: ERCC6L2. Tag Q3_22_rating was removed from gene: ERCC6L2. Tag Q2_22_rating tag was added to gene: ERCC6L2. Tag Q2_22_NHS_review tag was added to gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 |
Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: ERCC6L2. Tag Q3_22_rating tag was added to gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 | Sarah Leigh Phenotypes for gene: ERCC6L2 were changed from Bone marrow failure syndrome 2, 615715; MDS; AML to Bone marrow failure syndrome 2, OMIM:615715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.32 | ERCC6L2 | Sarah Leigh Publications for gene: ERCC6L2 were set to PMID: 30936069; PMID: 31221794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Classified gene: ERCC6L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Gene: ercc6l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | ERCC6L2 |
Angela Hamblin gene: ERCC6L2 was added gene: ERCC6L2 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to PMID: 30936069; PMID: 31221794 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715; MDS; AML Review for gene: ERCC6L2 was set to GREEN gene: ERCC6L2 was marked as current diagnostic Added comment: ERCC6L2 is a relatively recently discovered gene in which biallelic germline LOF variants are associated with bone marrow failure syndrome and this gene already has green status is cytopenia panels on PanelApp. Over the last 3 years, with more widespread testing, it has become apparent that in addition to being associated with bone marrow failure it is also associated with the development of MDS / AML with the acquisition of pathogenic variants in the TP53 gene (lack of ERCC6L2 results in defects in the transcription-coupled nucleotide excision repair pathway, leading to genome instability). Initially described in Finland, a presentation at the American Society of Haematology 2021 https://doi.org/10.1182/blood-2021-145039 illustrated that there are a number of cases in other European countries now reported. I am aware that cases have also been detected within the GMS; the cytopenia panel has demonstrated the germline mutations, whereas these were not highlighted on the WGS performed for the subsequent AML owing to the fact the gene is not currently included on the applied germline panel. Detection of this germline variant is critical to management of these patients as currently it would mean an allogeneic HSCT is required (and as with any germline variant there would be implications for related donor choice). Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.30 | RPS15 | Eleanor Williams Tag gene-checked tag was added to gene: RPS15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | RPS15 | Eleanor Williams commented on gene: RPS15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | RPS27A | Eleanor Williams Tag gene-checked tag was added to gene: RPS27A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | RPL31 | Eleanor Williams Tag gene-checked tag was added to gene: RPL31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | RPL23 | Eleanor Williams Tag gene-checked tag was added to gene: RPL23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | RPL36 | Eleanor Williams Tag gene-checked tag was added to gene: RPL36. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | NAF1 | Eleanor Williams commented on gene: NAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | NAF1 |
Eleanor Williams Tag new-gene-name was removed from gene: NAF1. Tag gene-checked tag was added to gene: NAF1. |
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| Haematological malignancies cancer susceptibility v2.30 | NAF1 | Eleanor Williams Publications for gene: NAF1 were set to 28297620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.29 | UBA2 | Sarah Leigh Phenotypes for gene: UBA2 were changed from lymphoblastic leukemia to acute lymphoblastic leukemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.28 | UBA2 |
Sarah Leigh 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 lymphoblastic leukemia Review for gene: UBA2 was set to RED Added comment: PMID:34982829 reports: for the first time to our knowledge, provided evidence of a UBA2 variant (somatic frameshift deletion) preceding the well-established initiating event ETV6-RUNX1. Further, we suggest the UBA2 deletion exerted a leukemia predisposing effect and that its essential role in Small Ubiquitin-like Modifier (SUMO) attachment (SUMOylation), regulating nearly all physiological and pathological cellular processes such as DNA-repair by nonhomologous end joining, may hold a mechanistic explanation for the predisposition. . Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.27 | 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 cancer susceptibility v2.26 | 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 cancer susceptibility v2.25 | 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 cancer susceptibility v2.24 | 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 cancer susceptibility v2.23 | MBD4 | Arina Puzriakova Tag for-review was removed from gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | IKZF1 | Arina Puzriakova Tag for-review was removed from gene: IKZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | DNAJC21 | Arina Puzriakova Tag for-review was removed from gene: DNAJC21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | TSR2 | Arina Puzriakova Tag for-review was removed from gene: TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | MBD4 | Arina Puzriakova commented on gene: MBD4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | IKZF1 | Arina Puzriakova commented on gene: IKZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | DNAJC21 | Arina Puzriakova commented on gene: DNAJC21: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | TSR2 | Arina Puzriakova commented on gene: TSR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.22 | IKZF1 |
Arina Puzriakova Source Expert Review Green was added to IKZF1. Source NHS GMS was added to IKZF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v2.22 | DNAJC21 |
Arina Puzriakova Source Expert Review Green was added to DNAJC21. Source NHS GMS was added to DNAJC21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v2.22 | TSR2 |
Arina Puzriakova Source NHS GMS was added to TSR2. Source Expert Review Red was added to TSR2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Haematological malignancies cancer susceptibility v2.21 | NAF1 | Arina Puzriakova commented on gene: NAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.21 | NAF1 | Arina Puzriakova Tag new-gene-name tag was added to gene: NAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.21 | RPS27A |
Arina Puzriakova Tag pharmacogenetic was removed from gene: RPS27A. Tag pharmacogenetics tag was added to gene: RPS27A. |
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| Haematological malignancies cancer susceptibility v2.21 | RAD51 | Arina Puzriakova Publications for gene: RAD51 were set to 28297620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.20 | RAD51 | Arina Puzriakova edited their review of gene: RAD51: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.20 | 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 cancer susceptibility v2.20 | 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 cancer susceptibility v2.19 | 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 cancer susceptibility v2.18 | 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 cancer susceptibility v2.17 | ACD | Ivone Leong Added comment: Comment on mode of inheritance: MOI 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" as the patient with AR inheritance had a more severe phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.17 | 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 cancer susceptibility v2.16 | 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 cancer susceptibility v2.15 | HPLH1 | Arina Puzriakova Tag curated_removed tag was added to gene: HPLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.15 | CSF3R | Arina Puzriakova Classified gene: CSF3R as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.15 | CSF3R | Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge). Rating Red as increased risk of AML due to CSF3R is associated with acquired rather than hereditary variants. One individual from PMID: 19620628 did develop a myelodysplastic syndrome, however this is not sufficient to promote this gene at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.15 | CSF3R | Arina Puzriakova Gene: csf3r has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.14 | CSF3R | Arina Puzriakova Phenotypes for gene: CSF3R were changed from MDS; Myeloma; B-ALL to Acute myeloid leukaemia; Hereditary neutrophilia; Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.13 | CSF3R | Arina Puzriakova Publications for gene: CSF3R were set to PMID: 27939403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.12 | CSF3R | Arina Puzriakova Tag somatic tag was added to gene: CSF3R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.12 | CSF3R | Arina Puzriakova reviewed gene: CSF3R: Rating: ; Mode of pathogenicity: None; Publications: 19620628, 12203110, 24753537, 26324699; Phenotypes: Acute myeloid leukaemia, Hereditary neutrophilia, Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.12 | MBD4 | Arina Puzriakova Classified gene: MBD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.12 | MBD4 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge) with a Green expert review rating. Studies indicate that while germline MBD4 deficiency alone does not drive malignant transformation, it may alter the mutational spectrum and in turn modify susceptibility and predisposition to cancers such as AML. Therefore, rating this gene as Amber with the recommendation of review by the GMS team with regards to whether such alterations are within the scope of this panel (added 'for-review' tag) |
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| Haematological malignancies cancer susceptibility v2.12 | MBD4 | Arina Puzriakova Gene: mbd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.11 | MBD4 | Arina Puzriakova Tag for-review tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.11 | MBD4 | Arina Puzriakova reviewed gene: MBD4: Rating: ; Mode of pathogenicity: None; Publications: 30049810; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.11 | IKZF1 | Arina Puzriakova edited their review of gene: IKZF1: Changed publications: 26981933, 28096536, 29889099, 29681510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.11 | IKZF1 | Arina Puzriakova Publications for gene: IKZF1 were set to PMID: 29681510; PMID: 29889099; PMID: 27939403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.10 | IKZF1 | Arina Puzriakova Classified gene: IKZF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.10 | IKZF1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge). Several studies indicate that coding germline IKZF1 variants are a risk factor for genetic predisposition to ALL. Therefore, this gene may be promoted to Green at the next panel update following GMS review (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.10 | IKZF1 | Arina Puzriakova Gene: ikzf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.9 | IKZF1 | Arina Puzriakova Tag for-review tag was added to gene: IKZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.9 | IKZF1 | Arina Puzriakova reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26981933, 28096536, 29681510; Phenotypes: Acute lymphoblastic leukemia (ALL), Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.9 | IKZF1 | Arina Puzriakova Phenotypes for gene: IKZF1 were changed from B-ALL; immunodeficiency, autoimmunity to Acute lymphoblastic leukaemia (ALL); Immunodeficiency, common variable, 13, OMIM:616873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.8 | DNAJC21 | Arina Puzriakova Tag for-review tag was added to gene: DNAJC21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.8 | DNAJC21 | Arina Puzriakova Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 | Arina Puzriakova Classified gene: DNAJC21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge) with a Green expert review rating. Biallelic variants in the DNAJC21 gene are associated with bone marrow failure syndrome-3 (MIM# 617052). At least 15 individuals reported in literature (PMIDs: 27346687; 28062395; 29146883; 29700810), of which only one developed acute myeloid leukaemia (AML-M7), at the age of 12 years (P3 in PMID: 27346687). However, it should be considered that the remaining cases were all children (14 mo - 14 yrs of age) and so the risk of malignancy later in life remains. BMF syndromes can be associated with an increased cancer risk, and in parallel with the Green expert review, DNAJC21 will be flagged for GMS review to assess whether there is substantial evidence to rate this gene Green on this panel. |
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| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 | Arina Puzriakova Gene: dnajc21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.6 | DNAJC21 | Arina Puzriakova Phenotypes for gene: DNAJC21 were changed from bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS to Bone marrow failure syndrome 3, OMIM:617052; Bone marrow failure syndrome 3, MONDO:0014887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | DNAJC21 |
Kiran Tawana gene: DNAJC21 was added gene: DNAJC21 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810 Phenotypes for gene: DNAJC21 were set to bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS Penetrance for gene: DNAJC21 were set to Complete Review for gene: DNAJC21 was set to GREEN Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.5 | MBD4 |
Kiran Tawana gene: MBD4 was added gene: MBD4 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to PMID: 30049810; PMID: 29760383; PMID: 32239153 Phenotypes for gene: MBD4 were set to AML, colonic polyps, uveal melanoma, glioblastoma Penetrance for gene: MBD4 were set to Complete Review for gene: MBD4 was set to GREEN Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.5 | CSF3R | Kiran Tawana reviewed gene: CSF3R: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27939403; Phenotypes: MDS, Myeloma, B-ALL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | CSF3R | Kiran Tawana Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | CSF3R |
Kiran Tawana gene: CSF3R was added gene: CSF3R was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: CSF3R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF3R were set to PMID: 27939403 Phenotypes for gene: CSF3R were set to MDS; Myeloma; B-ALL Penetrance for gene: CSF3R were set to unknown Review for gene: CSF3R was set to RED Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.5 | IKZF1 |
Kiran Tawana gene: IKZF1 was added gene: IKZF1 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to PMID: 29681510; PMID: 29889099; PMID: 27939403 Phenotypes for gene: IKZF1 were set to B-ALL; immunodeficiency, autoimmunity Penetrance for gene: IKZF1 were set to unknown Review for gene: IKZF1 was set to GREEN Added comment: Sources: Literature |
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| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova changed review comment from: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red.; to: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined. This indicates that there is NOT sufficient evidence for a Green rating and this gene should be downgraded to Amber/Red - will be flagged for review at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova Tag for-review tag was added to gene: TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova changed review comment from: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red/Amber.; to: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova Phenotypes for gene: TSR2 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML, Leukemia risk not well defined; Osteosarcoma, soft tissue sarcomas to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Classified gene: TSR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Added comment: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red/Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Gene: tsr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.3 | TSR2 | Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.3 | HPLH1 |
Eleanor Williams Tag locus-type-phenotype-only tag was added to gene: HPLH1. Tag ensembl_ids_known_missing tag was added to gene: HPLH1. |
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| Haematological malignancies cancer susceptibility v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.0 | Ellen McDonagh promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.21 | Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.20 | Louise Daugherty List of related panels changed from Haemonc;Haematological malignancies pertinent cancer susceptibility to Haemonc; Haematological malignancies pertinent cancer susceptibility | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.17 | Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.16 | HPLH1 | Ellen McDonagh Classified gene: HPLH1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.16 | HPLH1 | Ellen McDonagh Added comment: Comment on list classification: This has been removed as it is a 'phenotype only' locus type in HGNC and not a gene though it has a gene symbol. Not mapped to Ensembl coordinates. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.16 | HPLH1 | Ellen McDonagh Gene: hplh1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.15 | HPLH1 |
Ellen McDonagh gene: HPLH1 was added gene: HPLH1 was added to Haematological malignancies cancer susceptibility. Sources: Other Mode of inheritance for gene: HPLH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPLH1 were set to Hemophagocytic lymphohistiocytosis, familial, 1 Added comment: Gene added to this panel because it is part of the OMIM phenotypic series for familial hemophagocytic lymphohistiocytosis which is associated with suseptibility to haematological maligancy, and the other genes in this series have been added. Sources: Other |
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| Haematological malignancies cancer susceptibility v1.14 | UNC13D | Ellen McDonagh Added comment: Comment on mode of inheritance: Biallelic variants caused Hemophagocytic lymphohistiocytosis, familial, 3, whereas heterozygous variants in this gene have been associated with increased risk of lymphoma in PMID: 30758854, and with childhood leukemia in PMID 21370424. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.14 | UNC13D | Ellen McDonagh Mode of inheritance for gene: UNC13D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.13 | STXBP2 | Ellen McDonagh Phenotypes for gene: STXBP2 were changed from risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101 to risk of lymphoma; predisposition to acute lymphoblastic leukemia (ALL); Hemophagocytic lymphohistiocytosis, familial, 5 613101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.12 | STXBP2 | Ellen McDonagh Publications for gene STXBP2 were changed from 23100279 to 23100279; 24827398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.11 | STXBP2 | Ellen McDonagh Classified gene: STXBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.11 | STXBP2 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.11 | STXBP2 | Ellen McDonagh Gene: stxbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.10 | STXBP2 |
Ellen McDonagh gene: STXBP2 was added gene: STXBP2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 23100279 Phenotypes for gene: STXBP2 were set to risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101 Added comment: Gene on a list submitted by Clare Turnbull. Sources: Expert list, Literature |
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| Haematological malignancies cancer susceptibility v1.9 | UNC13D | Ellen McDonagh Classified gene: UNC13D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.9 | UNC13D | Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.9 | UNC13D | Ellen McDonagh Gene: unc13d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.8 | STX11 | Ellen McDonagh Classified gene: STX11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.8 | STX11 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.8 | STX11 | Ellen McDonagh Gene: stx11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.7 | STX11 | Ellen McDonagh Publications for gene STX11 were changed from 16582076 to 16582076; 26176172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.6 | STX11 |
Ellen McDonagh gene: STX11 was added gene: STX11 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX11 were set to 16582076 Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552 Added comment: This gene was present on a list submitted by Clare Turnbull. PMID: 16582076: Two of the six patients harbouring STX11 gene defects developed myelodysplastic syndrome (MDS) or acute myelogenous leukaemia (AML). Sources: Expert list, Literature |
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| Haematological malignancies cancer susceptibility v1.5 | UNC13D | Ellen McDonagh Publications for gene UNC13D were changed from 30758854; 24309606; 21370424 to 30758854; 24309606; 21370424; 24827398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.4 | UNC13D |
Ellen McDonagh gene: UNC13D was added gene: UNC13D was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature Mode of inheritance for gene: UNC13D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC13D were set to 30758854; 24309606; 21370424 Phenotypes for gene: UNC13D were set to Increased risk of lymphoma; predisposition to childhood anaplastic large cell lymphoma; predisposition to leukemia; increased susceptibility to malignancy Added comment: Gene on a gene list submitted by Clare Turnbull. Sources: Expert list, Literature |
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| Haematological malignancies cancer susceptibility v1.3 |
Ellen McDonagh Panel name changed from Haematological malignancies pertinent cancer susceptibility to Haematological malignancies cancer susceptibility List of related panels changed from Haemonc to Haemonc;Haematological malignancies pertinent cancer susceptibility |
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| Haematological malignancies cancer susceptibility v1.2 | RTEL1 | Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.1 | RTEL1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.1 | RTEL1 | Sarah Leigh Added comment: Comment on mode of inheritance: MOI change suggested by Lara Hawkes (Genomics England Clinical Fellow) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.1 | RTEL1 | Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51C | Ellen McDonagh classified RAD51C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RMRP | Ellen McDonagh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51C | Ellen McDonagh commented on gene: RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TERC | Ellen McDonagh classified TERC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RMRP | Ellen McDonagh classified RMRP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCM | Ellen McDonagh classified FANCM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCM | Ellen McDonagh classified FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | WAS | Ellen McDonagh commented on WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TERC | Ellen McDonagh classified TERC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RMRP | Ellen McDonagh classified RMRP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS27A | Sarah Leigh edited their review of RPS27A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS27A | Sarah Leigh reviewed RPS27A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51 | Ellen McDonagh marked RAD51 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51 | Ellen McDonagh classified RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SH2B3 | Ellen McDonagh marked SH2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SH2B3 | Ellen McDonagh classified SH2B3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCM | Ellen McDonagh reviewed FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | XRCC2 | Clare Turnbull reviewed XRCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | WRAP53 | Clare Turnbull reviewed WRAP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | WAS | Clare Turnbull reviewed WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | UBE2T | Clare Turnbull reviewed UBE2T | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TSR2 | Clare Turnbull reviewed TSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TP53 | Clare Turnbull reviewed TP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TINF2 | Clare Turnbull reviewed TINF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TERT | Clare Turnbull reviewed TERT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TERC | Clare Turnbull reviewed TERC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | STAT3 | Clare Turnbull reviewed STAT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SLX4 | Clare Turnbull reviewed SLX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SH2D1A | Clare Turnbull reviewed SH2D1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SH2B3 | Clare Turnbull reviewed SH2B3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SBDS | Clare Turnbull reviewed SBDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | SAMD9L | Clare Turnbull reviewed SAMD9L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RUNX1 | Clare Turnbull reviewed RUNX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RTEL1 | Clare Turnbull reviewed RTEL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS7 | Clare Turnbull reviewed RPS7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS29 | Clare Turnbull reviewed RPS29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS28 | Clare Turnbull reviewed RPS28 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS27A | Clare Turnbull reviewed RPS27A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS27 | Clare Turnbull reviewed RPS27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS26 | Clare Turnbull reviewed RPS26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS24 | Clare Turnbull reviewed RPS24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS19 | Clare Turnbull reviewed RPS19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS17 | Clare Turnbull reviewed RPS17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS15 | Clare Turnbull reviewed RPS15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPS10 | Clare Turnbull reviewed RPS10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL5 | Clare Turnbull reviewed RPL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL36 | Clare Turnbull reviewed RPL36 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL35A | Clare Turnbull reviewed RPL35A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL31 | Clare Turnbull reviewed RPL31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL27 | Clare Turnbull reviewed RPL27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL26 | Clare Turnbull reviewed RPL26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL23 | Clare Turnbull reviewed RPL23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL15 | Clare Turnbull reviewed RPL15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RPL11 | Clare Turnbull reviewed RPL11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RMRP | Clare Turnbull reviewed RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51C | Clare Turnbull reviewed RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | RAD51 | Clare Turnbull reviewed RAD51 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PTPN11 | Clare Turnbull reviewed PTPN11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PRF1 | Clare Turnbull reviewed PRF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PMS2 | Clare Turnbull reviewed PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PAX5 | Clare Turnbull reviewed PAX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PARN | Clare Turnbull reviewed PARN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | PALB2 | Clare Turnbull reviewed PALB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | OBFC1 | Clare Turnbull reviewed OBFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | NOP10 | Clare Turnbull reviewed NOP10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | NHP2 | Clare Turnbull reviewed NHP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | NF1 | Clare Turnbull reviewed NF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | NBN | Clare Turnbull reviewed NBN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | NAF1 | Clare Turnbull reviewed NAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | MSH6 | Clare Turnbull reviewed MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | MSH2 | Clare Turnbull reviewed MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | MLH1 | Clare Turnbull reviewed MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | MAD2L2 | Clare Turnbull reviewed MAD2L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | LIG4 | Clare Turnbull reviewed LIG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ITK | Clare Turnbull reviewed ITK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | HAX1 | Clare Turnbull reviewed HAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | GBA | Clare Turnbull reviewed GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | GATA2 | Clare Turnbull reviewed GATA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | GATA1 | Clare Turnbull reviewed GATA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FAS | Clare Turnbull reviewed FAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCM | Clare Turnbull reviewed FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCL | Clare Turnbull reviewed FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCI | Clare Turnbull reviewed FANCI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCG | Clare Turnbull reviewed FANCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCF | Clare Turnbull reviewed FANCF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCE | Clare Turnbull reviewed FANCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCD2 | Clare Turnbull reviewed FANCD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCC | Clare Turnbull reviewed FANCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCB | Clare Turnbull reviewed FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | FANCA | Clare Turnbull reviewed FANCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ETV6 | Clare Turnbull reviewed ETV6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ERCC4 | Clare Turnbull reviewed ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ELANE | Clare Turnbull reviewed ELANE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | DOCK8 | Clare Turnbull reviewed DOCK8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | DKC1 | Clare Turnbull reviewed DKC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | DDX41 | Clare Turnbull reviewed DDX41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | CTC1 | Clare Turnbull reviewed CTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | CEBPA | Clare Turnbull reviewed CEBPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | CBL | Clare Turnbull reviewed CBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | BRIP1 | Clare Turnbull reviewed BRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | BRCA2 | Clare Turnbull reviewed BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | BRCA1 | Clare Turnbull reviewed BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | BLM | Clare Turnbull reviewed BLM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ATM | Clare Turnbull reviewed ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ANKRD26 | Clare Turnbull reviewed ANKRD26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | ACD | Clare Turnbull reviewed ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | Ellen McDonagh approved panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | OBFC1 | Ellen McDonagh commented on OBFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||