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  1. Genes and Genomic Entities
  2. HNRNPA1

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1
OMIM: 164017, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber HNRNPA1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424
    • Amyotrophic lateral sclerosis 20 MIM#615426

    Green HNRNPA1 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 20 MIM#615426

    Green HNRNPA1 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 20 MIM#615426

    Green HNRNPA1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, distal, 3, MIM# 610099
    • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179