PanelApp (test)
  1. Genes and Genomic Entities
  2. RYR3

RYR3

ryanodine receptor 3
OMIM: 180903, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RYR3 in Mendeliome


Version 1.1902

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

Amber RYR3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • ClinGen
    • Expert Review Amber
    • Expert list
    Phenotypes
    • undetermined early-onset epileptic encephalopathy (MONDO:0018614)