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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 | 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 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 v3.2 | 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 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 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 v2.36 | 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 | MBD4 | Eleanor Williams Tag Q3_22_rating tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v2.34 | 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 v2.33 | MBD4 | Arina Puzriakova Tag Q3_22_expert_review tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 v2.30 | 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 | 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 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 v2.28 | 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 v2.23 | 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 v2.22 | 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 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 v2.17 | 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 v2.15 | HPLH1 | Arina Puzriakova Tag curated_removed tag was added to gene: HPLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematological malignancies cancer susceptibility v2.12 | CSF3R | Arina Puzriakova Tag somatic tag was added to gene: CSF3R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematological malignancies cancer susceptibility v2.11 | MBD4 | Arina Puzriakova Tag for-review tag was added to gene: MBD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematological malignancies cancer susceptibility v2.9 | IKZF1 | Arina Puzriakova Tag for-review tag was added to gene: IKZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematological malignancies cancer susceptibility v2.8 | DNAJC21 | Arina Puzriakova Tag for-review tag was added to gene: DNAJC21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 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 Tag for-review tag was added to gene: TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 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 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 v1.10 | 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 v1.6 | 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 v1.4 | 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 v1.2 | 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 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 | WAS | Ellen McDonagh commented on WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haematological malignancies cancer susceptibility | WAS | Clare Turnbull reviewed WAS |