HNRNPDL

heterogeneous nuclear ribonucleoprotein D like
OMIM: 607137, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green HNRNPDL in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 1G 609115
    • Limb girdle muscular dystrophy