RYR3

ryanodine receptor 3
OMIM: 180903, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red RYR3 in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital myopathy 20, MIM# 620310
  • developmental and epileptic encephalopathy (MONDO:0100062)

Red RYR3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related