PanelApp
  1. Genes and Genomic Entities
  2. PARN

PARN

poly(A)-specific ribonuclease
OMIM: 604212, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PARN in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371

    Green PARN in Mendeliome


    Version 1.2374

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371

    Green PARN in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    		review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PARN 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
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353

    Green PARN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353

    Green PARN in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353

    Green PARN in IBMDx study


    Version 0.35

    		review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
    • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353