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| Mendeliome v2.319 | RIPPLY3 | Rylee Peters Marked gene: RIPPLY3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.319 | RIPPLY3 | Rylee Peters Gene: ripply3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.319 | RIPPLY3 | Rylee Peters Classified gene: RIPPLY3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.319 | RIPPLY3 | Rylee Peters Gene: ripply3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.318 | RIPPLY3 |
Rylee Peters gene: RIPPLY3 was added gene: RIPPLY3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RIPPLY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIPPLY3 were set to 30241482; 21177346 Phenotypes for gene: RIPPLY3 were set to Congenital heart disease, MONDO:0005453, RIPPLY3-related Review for gene: RIPPLY3 was set to AMBER Added comment: RIPPLY3 encodes a transcriptional corepressor that interacts with TBX1 to modulate cardiac outflow tract development. PMID: 30241482 reports four individuals from four unrelated families with heterozygous missense RIPPLY3 variants presenting with conotruncal heart defects; these missense variants have 1-20hets in gnomAD v4. Luciferase reporter and co‑immunoprecipitation assays demonstrate reduced TBX1 repression. An earlier study demonstrated that Ripply3-deficient mice exhibit abnormal development of pharyngeal derivatives, including ectopic formation of the thymus and the parathyroid gland, as well as cardiovascular malformation (PMID: 21177346). Sources: Literature |
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