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  3. POT1
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Sarcoma soft tissue

Gene: POT1

Amber List (moderate evidence)
POT1 (protection of telomeres 1)
EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

Tumor predisposition syndrome-3 (TPDS3) is characterised by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance (e.g. neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers).
Sources: Expert Review, Literature
Created: 25 Sep 2024, 11:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478

Publications

Created: 25 Sep 2024, 11:49 p.m.

Panel version: 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Tumor predisposition syndrome 3, MONDO:0014368
  • Melanoma, cutaneous malignant, MIM#606478
OMIM
606478
Clinvar variants
Variants in POT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pot1 has been classified as Amber List (Moderate Evidence).

9 Oct 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POT1 were set to PMID: 36656928, 37466057

25 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pot1 has been classified as Amber List (Moderate Evidence).

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: POT1 was added gene: POT1 was added to Sarcoma soft tissue. Sources: Expert Review,Literature Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to PMID: 36656928, 37466057 Phenotypes for gene: POT1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478 Review for gene: POT1 was set to AMBER