Melanoma
Gene: POT1EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 5 panels
1 review
Chirag Patel (Genetic Health Queensland)
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).
Cutaneous melanoma is the most commonly reported malignancy in individuals with POT1-Tumor predisposition syndrome (increased risk for various benign and malignant neoplasms throughout life, with age-dependent penetrance - neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers). Multiple unrelated families reported with melanoma and POT1 variant.
Sources: Expert Review, LiteratureCreated: 12 Sep 2024, 3:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Melanoma, MONDO:0005105; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert Review
- Phenotypes
-
- Melanoma, MONDO:0005105
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pot1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POT1 were set to PMID: 24686849, 30586141, 24686846, 38724174
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pot1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pot1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pot1 has been classified as Green List (High Evidence).
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 Melanoma. 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: 24686849, 30586141, 24686846, 38724174 Phenotypes for gene: POT1 were set to Melanoma, MONDO:0005105; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478 Review for gene: POT1 was set to GREEN