Activity
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14 actions
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| Haematological malignancies cancer susceptibility v4.34 | POT1 | Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes (Tumor predisposition syndrome 3, OMIM:615848) accessed on 27-10-2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.34 | POT1 | Arina Puzriakova Phenotypes for gene: POT1 were changed from Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers; Multiple myeloma to Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers; Multiple myeloma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.33 | POT1 | Arina Puzriakova Publications for gene: POT1 were set to PMID: 36467798; 30213928 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.32 | POT1 | Arina Puzriakova edited their review of gene: POT1: Changed publications to: 27528712, 29693246, 33216348, 34193977, 34769003, 36467798, 39845416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.32 | POT1 | Arina Puzriakova changed review comment from: Germline variants in POT1 have been linked to a wide range of haematological malignancies including myeloid and lymphoid neoplasms (PMID: 27528712; 34193977; 34769003) and multiple myeloma (PMID: 36467798; 39845416). POT1 variants lead to telomeric elongation and increased telomere fragility as the main functional effect. However, haematologic malignancies often occur as part of a broader spectrum of POT1-associated cancers and therefore this gene will be flagged for additional GMS expert review to determine whether it is appropriate to include on this panel.; to: Germline variants in POT1 have been linked to a wide range of haematological malignancies including myeloid and lymphoid neoplasms (PMID: 27528712; 29693246; 33216348; 34193977; 34769003) and multiple myeloma (PMID: 36467798; 39845416). POT1 variants lead to telomeric elongation and increased telomere fragility as the main functional effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.32 | POT1 | Arina Puzriakova Classified gene: POT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.32 | POT1 |
Arina Puzriakova Added comment: Comment on list classification: Multiple studies have been published showing germline POT1 variants predispose to a broad spectrum of haematological cancers including chronic lymphocytic leukaemia, lymphomas and myeloid malignancies. Inclusion on this panel may be warranted to allow clinical surveillance of high-risk families. However, haematologic malignancies often occur as part of a broader spectrum of POT1-associated cancers and therefore this gene will be flagged for additional GMS expert review to determine whether it is appropriate to include on this panel. |
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| Haematological malignancies cancer susceptibility v4.32 | POT1 | Arina Puzriakova Gene: pot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.31 | POT1 | Arina Puzriakova Phenotypes for gene: POT1 were changed from Multiple myeloma to Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers; Multiple myeloma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| Haematological malignancies cancer susceptibility v4.30 | POT1 | Arina Puzriakova changed review comment from: Germline variants in POT1 have been linked to a wide range of haematological malignancies including myeloid and lymphoid neoplasms (PMID: 27528712; 34193977; 34769003) and multiple myeloma (PMID: 36467798; 39845416). POT1 variants lead to telomeric elongation and increased telomere fragility as the main functional effect. However, hematologic malignancies often occur as part of a broader spectrum of POT1-associated cancers and therefore this gene will be flagged for additional GMS expert review to determine whether it is appropriate to include on this panel.; to: Germline variants in POT1 have been linked to a wide range of haematological malignancies including myeloid and lymphoid neoplasms (PMID: 27528712; 34193977; 34769003) and multiple myeloma (PMID: 36467798; 39845416). POT1 variants lead to telomeric elongation and increased telomere fragility as the main functional effect. However, haematologic malignancies often occur as part of a broader spectrum of POT1-associated cancers and therefore this gene will be flagged for additional GMS expert review to determine whether it is appropriate to include on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.30 | POT1 | Arina Puzriakova reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27528712, 34193977, 34769003, 36467798, 39845416; Phenotypes: Tumor predisposition syndrome 3, OMIM:615848, Lymphoid and myeloid cancers, Multiple myeloma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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