POLA2:Ensemblv90

DNA polymerase alpha 2, accessory subunit
ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green POLA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.178

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.235

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Literature
    • Expert Review Green
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Telomere biology syndrome MONDO:0100137

    Green POLA2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Telomere biology syndrome MONDO:0100137