POT1:Ensemblv90

protection of telomeres 1
OMIM: 606478, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green POT1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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 0.370

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

    Red POT1 in NCGC


    Version 0.3

    0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Melanoma, cutaneous malignant, susceptibility to, 10

    Red POT1 in TCGA_PANCAN_2018


    Version 0.3

    0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Melanoma, cutaneous malignant, susceptibility to, 10

    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

    Green POT1 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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

    Green POT1 in Incidentalome


    Version 1.0

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

    Green POT1 in Melanoma


    Level 2: Cancer Predisposition
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Literature
    • Expert Review Green
    Phenotypes
    • Melanoma, MONDO:0005105
    • Tumor predisposition syndrome 3, MONDO:0014368
    • Melanoma, cutaneous malignant, MIM#606478