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| Paediatric disorders - additional genes v8.14 | RYR3 |
Ida Ertmanska 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 Added comment: 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 |
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