Haematological malignancies cancer susceptibility
Gene: POT1EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 4 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: OMIM phenotypes (Tumor predisposition syndrome 3, OMIM:615848) accessed on 27-10-2025Created: 28 Oct 2025, 9:46 a.m. | Last Modified: 28 Oct 2025, 9:46 a.m.
Panel Version: 4.34
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.Created: 27 Oct 2025, 2:50 p.m. | Last Modified: 27 Oct 2025, 2:50 p.m.
Panel Version: 4.32
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.Created: 27 Oct 2025, 2:41 p.m. | Last Modified: 27 Oct 2025, 2:52 p.m.
Panel Version: 4.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers; Multiple myeloma
Publications
Lauma Freimane (Children's Clinical University Hospital)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Tumor predisposition syndrome 3, OMIM:615848
- Lymphoid and myeloid cancers
- Multiple myeloma
- Tags
- OMIM
- 606478
- Clinvar variants
- Variants in POT1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: POT1 were set to PMID: 36467798; 30213928
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pot1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POT1 were changed from Multiple myeloma to Tumor predisposition syndrome 3, OMIM:615848; Lymphoid and myeloid cancers; Multiple myeloma
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: POT1. Tag Q3_25_expert_review tag was added to gene: POT1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Lauma Freimane (Children's Clinical University Hospital)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