POT1

protection of telomeres 1
OMIM: 606478, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green POT1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary neoplastic syndrome, MONDO:0015356, POT1-related

    Green POT1 in Incidentalome


    Version 0.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
    Tags
    • cancer

    Green POT1 in Melanoma


    Level 2: Cancer Predisposition
    Version 1.1

    review 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

    Green POT1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber POT1 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    review 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