Gene Symbol:
RYR1
HGNC:10483
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.2
Filters:

Definitive classifications

congenital multicore myopathy with external ophthalmoplegia
Submitted as: OMIM:255320
AR
07/22/2015
Evaluated
09/11/2023
Submitted
malignant hyperthermia, susceptibility to, 1
Submitted as: OMIM:145600
AD
10/30/2015
Evaluated
09/28/2021
Submitted
RYR1-related myopathy
AR
07/27/2020
Evaluated
04/21/2024
Submitted
malignant hyperthermia, susceptibility to, 1
AD
11/25/2020
Evaluated
04/21/2024
Submitted
RYR1-related myopathy
AD
10/26/2020
Evaluated
04/21/2024
Submitted

Strong classifications

central core myopathy
Submitted as: OMIM:117000
AD
12/24/2020
Evaluated
03/31/2021
Submitted
congenital multicore myopathy with external ophthalmoplegia
Submitted as: OMIM:255320
AR
12/24/2020
Evaluated
03/31/2021
Submitted
central core myopathy
Submitted as: OMIM:117000
AD
03/31/2023
Evaluated
11/30/2023
Submitted
malignant hyperthermia, susceptibility to, 1
Submitted as: OMIM:145600
AD
06/19/2023
Evaluated
11/30/2023
Submitted
central core myopathy
Submitted as: OMIM:117000
AR
03/31/2023
Evaluated
11/30/2023
Submitted
central core myopathy
Submitted as: OMIM:117000
AR
12/24/2020
Evaluated
03/31/2021
Submitted
malignant hyperthermia, susceptibility to, 1
Submitted as: OMIM:145600
AD
12/24/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

central core myopathy
Submitted as: Orphanet:597
AD
09/14/2021
Evaluated
09/14/2021
Submitted
malignant hyperthermia of anesthesia
Submitted as: Orphanet:423
AD
09/14/2021
Evaluated
09/14/2021
Submitted
lethal multiple pterygium syndrome
Submitted as: Orphanet:33108
AR
09/14/2021
Evaluated
09/14/2021
Submitted
King-Denborough syndrome
Submitted as: Orphanet:99741
AD
09/14/2021
Evaluated
09/14/2021
Submitted
benign Samaritan congenital myopathy
Submitted as: Orphanet:324581
AR
09/14/2021
Evaluated
09/14/2021
Submitted
congenital myopathy with myasthenic-like onset
Submitted as: Orphanet:424107
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive centronuclear myopathy
Submitted as: Orphanet:169186
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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