RYR2 - Gene browser

RYR2

ryanodine receptor 2

HCNC Approved Symbol: RYR2 (HGNC:10484)
Genomic Coordinates: 1:237,042,184 - 237,833,988 (1q43)
Synonyms: ARVC2, VTSIP, ARVD2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the RYR2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Left ventricular hypertrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Intellectual disability: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Ventricular tachycardia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Syncope: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Arrhythmias: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)