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Paediatric disorders - additional genes

Gene: RYR3

Red List (low evidence)
RYR3 (ryanodine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000198838
EnsemblGeneIds (GRCh37): ENSG00000198838
OMIM: 180903, Gene2Phenotype
RYR3 is in 6 panels

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 39762984 Kim et al., 2025
Trio WGS study of 18 probands with congenital anomalies.
P4 = het de novo c.12295G > T (p.Glu4099Ter) variant in RYR3; patient features: duodenal atresia, cardiovascular abnormalities, and vesicoureteral reflux. Variant not in gnomAD v4.1.1.
Zebrafish ryr3 knockout showed enlarged atria and ventricle compared to controls at 3dpf.

PMID: 41022857 Jeong & Bulyk, 2025
Study investigated congenital heart defect (CHD) and orofacial cleft (OFC) parent-offspring trio cohorts (n = 3835 and 1844, respectively).
4 de novo missense (L110I, S2130L, Y2743C, F2957L) variants identified in a CHD cohort. Y2743C has a homozygote & MAF=0.0002760 in gnomAD (higher than expected for AD disease).
Sources: Literature
Created: 3 Sep 2026, 1:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital heart disease, MONDO:0005453

Publications

Created: 3 Sep 2026, 1:56 p.m.

Panel version: 8.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • congenital heart disease, MONDO:0005453
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: RYR3 was added gene: RYR3 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR3 were set to 39762984; 41022857 Phenotypes for gene: RYR3 were set to congenital heart disease, MONDO:0005453 Review for gene: RYR3 was set to RED