HNRNPDL

heterogeneous nuclear ribonucleoprotein D like
OMIM: 607137, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber HNRNPDL in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
Green HNRNPDL in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0 (22 Mar 2023)

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