RYR1 - Gene browser

RYR1

ryanodine receptor 1

HCNC Approved Symbol: RYR1 (HGNC:10483)
Genomic Coordinates: 19:38,433,691 - 38,587,564 (19q13.2)
Synonyms: RYR, PPP1R137, MHS, MHS1, CCO
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

91Patients

In total, 91 patients were diagnosed with a variant in the RYR1 gene.

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

091
Patient count

Myopathy: 19 (20.9%)
Patient Count: 19 (20.9%)
% of total patients presenting each phenotype is shown in parentheses.
19 (20.9%)
Muscle weakness: 18 (19.8%)
Patient Count: 18 (19.8%)
% of total patients presenting each phenotype is shown in parentheses.
18 (19.8%)
Proximal muscle weakness: 14 (15.4%)
Patient Count: 14 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
14 (15.4%)
Hypotonia: 9 (9.9%)
Patient Count: 9 (9.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (9.9%)
Motor delay: 6 (6.6%)
Patient Count: 6 (6.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (6.6%)