POT1

protection of telomeres 1
OMIM: 606478, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green POT1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.136

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Telomere syndrome, MONDO:0100137, POT1-related

    Green POT1 in Incidentalome


    Version 0.402

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Telomere syndrome, MONDO:0100137, POT1-related
    Tags
    • cancer

    Amber POT1 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.3

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Telomere syndrome, MONDO:0100137, POT1-related

    Green POT1 in Melanoma


    Level 2: Cancer Predisposition
    Version 1.1

    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

    0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber POT1 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.1

    1 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