Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: RYR3

Red List (low evidence)

RYR3 (ryanodine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000198838
EnsemblGeneIds (GRCh37): ENSG00000198838
OMIM: 180903, Gene2Phenotype
RYR3 is in 2 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

I don't know

2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018.
Note: In September 2021, the ClinGen Epilepsy GCEP opted to change the disease term on this curation from undetermined early-onset epileptic encephalopathy to developmental epileptic encephalopathy.
Sources: ClinGen
Created: 4 Apr 2023, 12:22 a.m. | Last Modified: 4 Apr 2023, 12:22 a.m.
Panel Version: 1.757

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental and epileptic encephalopathy (MONDO:0100062)

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

DISPUTED by ClinGen for myopathy. LIMITED for epilepsy.
Created: 27 Feb 2025, 5:12 a.m. | Last Modified: 27 Feb 2025, 5:13 a.m.
Panel Version: 1.2305
One family reported with nemaline myopathy and other cases reported as part of large fetal akinesia/arthrogryposis discovery cohorts reporting multiple novel gene candidates.
Sources: Expert list
Created: 15 Jun 2020, 12:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 20, MIM# 620310

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital myopathy 20, MIM# 620310
  • developmental and epileptic encephalopathy (MONDO:0100062)
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr3 has been classified as Red List (Low Evidence).

9 Apr 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR3 were changed from Congenital myopathy 20, MIM# 620310 to Congenital myopathy 20, MIM# 620310; developmental and epileptic encephalopathy (MONDO:0100062)

9 Apr 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RYR3 were set to 29498452; 32451403; 31230720

9 Apr 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RYR3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Apr 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR3 were changed from Nemaline myopathy; fetal akinesia; arthrogryposis to Congenital myopathy 20, MIM# 620310

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr3 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr3 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RYR3 was added gene: RYR3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR3 were set to 29498452; 32451403; 31230720 Phenotypes for gene: RYR3 were set to Nemaline myopathy; fetal akinesia; arthrogryposis Review for gene: RYR3 was set to AMBER