RYR1

ryanodine receptor 1
OMIM: 180901, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green RYR1 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review
No list RYR1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Central core disease, MIM# 117000 Multiple pterygium syndrome
Green RYR1 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Red RYR1 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Central core disease of muscle, 117000
Red RYR1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes congenital muscular dystrophies Central core disease Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber
Green RYR1 in Arthrogryposis Level 2: Neurology Version 9.27 Latest signed off version: v9.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Expert Radboud University Medical Center, Nijmegen Expert list Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 congenital muscular dystrophies Minicore myopathy with external ophthalmoplegia 255320
Green RYR1 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Central core disease, OMIM:117000 Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000 Minicore myopathy with external ophthalmoplegia, OMIM:255320 King-Denborough syndrome, OMIM:619542 Tags pharmacogenetics treatable
Green RYR1 in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green London North GLH Phenotypes Central core disease, OMIM:117000 (Dominant & recessive) Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive) Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Red RYR1 in Congenital myaesthenic syndrome Level 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes RYR1-related congenital myopathy
Green RYR1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Central core disease, 117000 congenital myopathy malignant hyperthermia
Amber RYR1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders
Amber RYR1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.92 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders
Green RYR1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.155 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Green RYR1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
Amber RYR1 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes CENTRAL CORE DISEASE OF MUSCLE CCD
Red RYR1 in Intellectual disability Level 2: Developmental disorders Version 9.296 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Red RYR1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green RYR1 in Malignant hyperthermia Level 2: Neurology Version 1.5 Latest signed off version: v1.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 1}, OMIM:145600
Green RYR1 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, OMIM:117000

RYR1

19 panels

Green RYR1 in Skeletal Muscle Channelopathies

Sources

No list RYR1 in Fetal hydrops

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Phenotypes

Green RYR1 in Rhabdomyolysis and metabolic muscle disorders

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Phenotypes

Red RYR1 in Paroxysmal central nervous system disorders

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Phenotypes

Red RYR1 in Congenital muscular dystrophy

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Phenotypes

Green RYR1 in Arthrogryposis

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Phenotypes

Green RYR1 in Congenital myopathy

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Phenotypes

Tags

Green RYR1 in Skeletal muscle channelopathy

Sources

Phenotypes

Red RYR1 in Congenital myaesthenic syndrome

Sources

Phenotypes

Green RYR1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Sources

Phenotypes

Amber RYR1 in Undiagnosed metabolic disorders

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Phenotypes

Amber RYR1 in Likely inborn error of metabolism

Sources

Phenotypes

Green RYR1 in Fetal anomalies

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Phenotypes

Green RYR1 in DDG2P

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Phenotypes

Amber RYR1 in Clefting

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Phenotypes

Red RYR1 in Intellectual disability

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Phenotypes

Red RYR1 in Childhood onset dystonia, chorea or related movement disorder

Sources

Green RYR1 in Malignant hyperthermia

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Phenotypes

Green RYR1 in Acute rhabdomyolysis

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Phenotypes