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Haematological malignancies cancer susceptibility v4.40 NAF1 Ida Ertmanska Tag gene-checked was removed from gene: NAF1.
Haematological malignancies cancer susceptibility v4.40 SH2B3 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SH2B3.
Haematological malignancies cancer susceptibility v4.40 DNAH9 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: DNAH9.
Haematological malignancies cancer susceptibility v4.40 DHX34 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: DHX34.
Haematological malignancies cancer susceptibility v4.40 TCF3 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: TCF3.
Tag Q2_25_expert_review was removed from gene: TCF3.
Haematological malignancies cancer susceptibility v4.40 POT1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: POT1.
Tag Q3_25_expert_review was removed from gene: POT1.
Haematological malignancies cancer susceptibility v4.40 KDM1A Arina Puzriakova Tag Q3_25_promote_green was removed from gene: KDM1A.
Tag Q3_25_expert_review was removed from gene: KDM1A.
Haematological malignancies cancer susceptibility v4.40 HAVCR2 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: HAVCR2.
Tag Q3_25_expert_review was removed from gene: HAVCR2.
Haematological malignancies cancer susceptibility v4.38 POT1 Arina Puzriakova Source NHS GMS was added to POT1.
Source Expert Review Green was added to POT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Haematological malignancies cancer susceptibility v4.35 TCF3 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI to monoallelic - PMID: 36576946 states that 'The allele fraction of each variant in each sample was confirmed to be ∼50%, consistent with a heterozygous genotype.'
Haematological malignancies cancer susceptibility v4.35 TCF3 Arina Puzriakova Mode of inheritance for gene: TCF3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies cancer susceptibility v4.33 HAVCR2 Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: HAVCR2.
Haematological malignancies cancer susceptibility v4.33 HAVCR2 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: HAVCR2.
Haematological malignancies cancer susceptibility v4.33 HAVCR2 Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: HAVCR2.
Haematological malignancies cancer susceptibility v4.30 POT1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: POT1.
Tag Q3_25_expert_review tag was added to gene: POT1.
Haematological malignancies cancer susceptibility v4.28 KDM1A Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KDM1A.
Tag Q3_25_expert_review tag was added to gene: KDM1A.
Haematological malignancies cancer susceptibility v4.27 HAVCR2 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: HAVCR2.
Haematological malignancies cancer susceptibility v4.25 SH2B3 Arina Puzriakova Tag Q2_25_ MOI was removed from gene: SH2B3.
Haematological malignancies cancer susceptibility v4.24 SH2B3 Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SH2B3.
Haematological malignancies cancer susceptibility v4.24 SH2B3 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: SH2B3.
Haematological malignancies cancer susceptibility v4.19 NAPRT Sarah Leigh Mode of inheritance for gene: NAPRT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Haematological malignancies cancer susceptibility v4.18 NAPRT Sarah Leigh Mode of inheritance for gene: NAPRT was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility v4.15 DNAH9 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: DNAH9.
Haematological malignancies cancer susceptibility v4.12 DHX34 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: DHX34.
Haematological malignancies cancer susceptibility v4.8 TCF3 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: TCF3.
Tag Q2_25_expert_review tag was added to gene: TCF3.
Haematological malignancies cancer susceptibility v4.6 PTPN13 Arina Puzriakova Tag watchlist tag was added to gene: PTPN13.
Haematological malignancies cancer susceptibility v4.5 HAVCR2 Lauma Freimane gene: HAVCR2 was added
gene: HAVCR2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to PMID: 32005988
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like (OMIM: 618398)
Penetrance for gene: HAVCR2 were set to Incomplete
Mode of pathogenicity for gene: HAVCR2 was set to Other
Review for gene: HAVCR2 was set to GREEN
gene: HAVCR2 was marked as current diagnostic
Added comment: From PMID: 32005988:
Homozygous p.Ile97Met variant was found in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with European ancestry, 1 patient from North Africa, and patient from Reunion Island.
Sources: Expert list, Expert Review, Literature
Haematological malignancies cancer susceptibility v4.5 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Haematological malignancies cancer susceptibility v4.5 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
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
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
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
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
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
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
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
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
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.
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.
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.
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.
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.
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)
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)
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)
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)
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)
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.
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.
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.
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.
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
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.
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.
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
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.
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
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)
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)
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)
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.
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
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
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
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
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.
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
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
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
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
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