Congenital Heart Defect
Gene: RREB1
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: LiteratureCreated: 3 Jun 2025, 11:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rasopathy, MONDO:0021060, RREB1-related
Publications
Gene: rreb1 has been classified as Green List (High Evidence).
Gene: rreb1 has been classified as Green List (High Evidence).
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