PanelApp (stage)
  1. Genes and Genomic Entities
  2. HNRNPA2B1

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1
OMIM: 600124, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber HNRNPA2B1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422

    Amber HNRNPA2B1 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

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

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • amyotrophic lateral sclerosis MONDO:0004976

    Green HNRNPA2B1 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
    • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422

    Green HNRNPA2B1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Royal Melbourne Hospital
    Phenotypes
    • oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460

    Green HNRNPA2B1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460