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

HNRNPDL

heterogeneous nuclear ribonucleoprotein D like
OMIM: 607137, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green HNRNPDL in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115

Green HNRNPDL 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 1G 609115