| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.469 | RYR3 | Bryony Thompson Marked gene: RYR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.469 | RYR3 | Bryony Thompson Gene: ryr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.469 | RYR3 | Bryony Thompson Classified gene: RYR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.469 | RYR3 | Bryony Thompson Gene: ryr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.468 | RYR3 |
Bryony Thompson gene: RYR3 was added gene: RYR3 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 GREEN Added comment: Congenital heart disease - at least 4 rare de novo missense and a supporting knockout zebrafish model PMID: 39762984 - a proband with CHD phenotype (Duodenal atresia, Ventricular septal defect, Secundum atrial septal defect, Tricuspid valve prolapse, Vesicoureteral reflux) with a de novo stopgain variant (c.12295G>T). Zebrafish knockout shows enlarged atria and ventricle, matching patient phenotype PMID: 41022857 - 4 de novo missense (L110I, S2130L, Y2743C, F2957L - Y2743C has a homozygote & AF in gnomAD higher than expected for AD disease - AF=0.0002760) identified in a CHD cohort Sources: Literature |
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