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Congenital Heart Defect

Gene: RREB1

Green List (high evidence)

RREB1 (ras responsive element binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000124782
EnsemblGeneIds (GRCh37): ENSG00000124782
OMIM: 602209, Gene2Phenotype
RREB1 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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
Created: 3 Jun 2025, 11:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rasopathy, MONDO:0021060, RREB1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rasopathy, MONDO:0021060, RREB1-related
OMIM
602209
Clinvar variants
Variants in RREB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rreb1 has been classified as Green List (High Evidence).

3 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rreb1 has been classified as Green List (High Evidence).

3 Jun 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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