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Additional findings_Adult

Gene: RYR2

Green List (high evidence)
RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772

Created: 30 Jul 2020, 9:54 a.m.
Last Modified: 30 Jul 2020, 9:54 a.m.
Panel version: 0.81

Details

Mode of Inheritance
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
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
None
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr2 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RYR2 was added gene: RYR2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: RYR2 was set to Unknown