RYR3

ryanodine receptor 3
OMIM: 180903, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RYR3 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • congenital heart disease MONDO:0005453

Green RYR3 in Mendeliome


Version 1.3519

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • congenital heart disease MONDO:0005453
  • Congenital myopathy 20, MIM# 620310
  • developmental and epileptic encephalopathy (MONDO:0100062)

Amber RYR3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

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