POPDC3

popeye domain containing 3
OMIM: 605824, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber POPDC3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
    • muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014
    Tags
    • Q1_24_promote_green
    • Q1_24_NHS_review