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Hypertrophic cardiomyopathy_HCM

Gene: RYR2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Gene is associated with CPVT phenotype.
Created: 29 Jul 2020, 6:23 a.m. | Last Modified: 29 Jul 2020, 6:23 a.m.
Panel Version: 0.105
Created: 29 Jul 2020, 6:23 a.m.
Last Modified: 29 Jul 2020, 6:23 a.m.
Panel version: 0.105

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Limited evidence by ClinGen working group.

Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity.

No additional reports in association with HCM found.
Sources: Literature
Created: 29 Jul 2020, 1:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypertrophic cardiomyopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jul 2020, 1:10 a.m.

Panel version: 0.89

History Filter Activity

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr2 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr2 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr2 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: RYR2 was added gene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254 Phenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy Review for gene: RYR2 was set to AMBER gene: RYR2 was marked as current diagnostic