RYR2

ryanodine receptor 2
OMIM: 180902, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red RYR2 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Tags
  • refuted

Green RYR2 in Catecholaminergic Polymorphic Ventricular Tachycardia


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772

Red RYR2 in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy

Green RYR2 in Incidentalome


Version 1.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
  • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
  • Hypertrophic cardiomyopathy
Tags
  • cardiac

Green RYR2 in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772

Green RYR2 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 2, 600996

Green RYR2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic
  • Arrhythmogenic right ventricular dysplasia 2

Green RYR2 in Incidentalome_PREGEN_DRAFT


Version 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green RYR2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Ventricular tachycardia, catecholaminergic polymorphic
Tags
  • cardiac
  • treatable

Green RYR2 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
  • Arrhythmogenic right ventricular dysplasia 2 , MIM#600996