RPA1

replication protein A1
OMIM: 179835, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RPA1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.130

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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 1.3795

    1 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 0.92

    1 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 Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

    0 reviews Unknown
    Sources
    • Literature
    • Expert Review Green
    Tags
    • umccr

    Green RPA1 in IBMDx study


    Version 0.38

    1 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

    Green RPA1 in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690