Activity
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7 actions
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| Haematological malignancies cancer susceptibility v4.30 | KDM1A | Arina Puzriakova Classified gene: KDM1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.30 | KDM1A | Arina Puzriakova Added comment: Comment on list classification: Significant enrichment of KDM1A germline P/LP variants in MM patients has been identified and independently replicated. KDM1A has since been cited and acknowledged as a germline MM predisposition gene in the scientific literature. This may warrant inclusion on this panel to allow clinical surveillance of high-risk families, and therefore tagging for promotion to Green, subject to GMS expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.30 | KDM1A | Arina Puzriakova Gene: kdm1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.29 | KDM1A | Arina Puzriakova Publications for gene: KDM1A were set to 29559475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| Haematological malignancies cancer susceptibility v4.28 | KDM1A | Arina Puzriakova reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29559475, 39845416; Phenotypes: Multiple myeloma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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