RPA1

replication protein A1
OMIM: 179835, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RPA1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
    • Bone marrow failure
    • T- and B-cell lymphopaenia
    • pulmonary fibrosis
    • skin manifestations
    • short telomeres

    Green RPA1 in Mendeliome


    Version 1.2302

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
    • Bone marrow failure
    • T- and B-cell lymphopaenia
    • pulmonary fibrosis
    • skin manifestations
    • short telomeres

    Green RPA1 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.84

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
    • Bone marrow failure
    • T- and B-cell lymphopaenia
    • pulmonary fibrosis
    • skin manifestations
    • short telomeres

    Green RPA1 in IBMDx study


    Version 0.33

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • IBMDx Study
    • Literature
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
    • Bone marrow failure
    • T- and B-cell lymphopaenia
    • pulmonary fibrosis
    • skin manifestations
    • short telomeres