1. Genes and Genomic Entities
  2. HNRNPA2B1

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1
OMIM: 600124, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HNRNPA2B1 in Congenital muscular dystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Research
    • Expert list
    • Other
    Phenotypes
    • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
    Green HNRNPA2B1 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • oculopharyngodistal myopathy
    • muscular dystrophy
    • congenital myopathy
    Amber HNRNPA2B1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Amber
    Phenotypes
    • Amyotrophic lateral sclerosis, MONDO:0004976
    • ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
    Green HNRNPA2B1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Early-onset oculopharyngeal muscular dystrophy