POPDC3

popeye domain containing 3
OMIM: 605824, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green POPDC3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.39
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
    • muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014