POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red POLE in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • MONDO:0002254 syndromic disease

    Green POLE in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • FILS syndrome, 615139
    • IMAGE-I syndrome, 618336
    • {Colorectal cancer, susceptibility to, 12}, 615083
    Tags
    • deep intronic

    Green POLE in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • IMAGE-I syndrome, MIM# 618336

    Green POLE in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • FILS syndrome, MIM# 615139
    • IMAGE-I syndrome, MIM# 618336
    Tags
    • deep intronic

    Green POLE in Microcephalic Primordial Dwarfism and Slender bone dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336

    Red POLE in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • MONDO:0002254 syndromic disease

    Green POLE in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • FILS syndrome, MIM# 615139
    • IMAGE-I syndrome, MIM# 618336
    Tags
    • deep intronic

    Green POLE in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • IMAGE-I syndrome 618336

    Green POLE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • IMAGE-I syndrome, MIM# 618336
    Tags
    • treatable
    • endocrine

    Green POLE in Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287
    • POLE-associated polyposis, MIM#615083

    Green POLE in Endometrial Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Endometrial cancer, MONDO:0011962
    • POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287
    • POLE-associated polyposis, MIM#615083