JPH1

junctophilin 1
OMIM: 605266, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green JPH1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital myopathy 25, MIM# 620964

Green JPH1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.85

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Congenital myopathy 25, MIM# 620964