POPDC3:Ensemblv90

popeye domain containing 3
OMIM: 605824, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green POPDC3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848

Green POPDC3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848

    Green POPDC3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848