Sarcoma soft tissue
Gene: POT1
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, LiteratureCreated: 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
Gene: pot1 has been classified as Amber List (Moderate Evidence).
Publications for gene: POT1 were set to PMID: 36656928, 37466057
Gene: pot1 has been classified as Amber List (Moderate Evidence).
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