| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.446 | RREB1 | Zornitza Stark Marked gene: RREB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.446 | RREB1 | Zornitza Stark Gene: rreb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.445 | RREB1 | Chirag Patel Classified gene: RREB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.445 | RREB1 | Chirag Patel Gene: rreb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.444 | RREB1 |
Chirag Patel gene: RREB1 was added gene: RREB1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RREB1 were set to PMID: 40418122, 38332451 Phenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related Review for gene: RREB1 was set to GREEN Added comment: 7 individuals with truncating variants in RREB1 gene and Rasopathy phenotype: congenital heart disease, genitourinary malformations, dental anomalies, developmental delay, short stature, and facial/musculoskeletal features reminiscent of Noonan syndrome. 5/7 variants were de novo, 1/7 inherited from father, and 1/7 not present in available parent. RREB1 encodes a transcriptional repressor of Ras-MAPK signaling. In vitro models of RREB1 deficiency demonstrate dysregulated Ras-MAPK signaling. Mouse models of RREB1 haploinsufficiency have RASopathy features (hypertelorism, short stature, and cardiac hypertrophy). Sources: Literature |
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