DDG2P
Gene: RREB1

RREB1 (ras responsive element binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000124782
EnsemblGeneIds (GRCh37): ENSG00000124782
OMIM: 602209, Gene2Phenotype
RREB1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay are limited, monoallelic_autosomal and loss of function (PMIDs: 38332451, 40418122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03775.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay

OMIM

602209

Clinvar variants

Variants in RREB1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RREB1 was added gene: RREB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RREB1 were set to 38332451; 40418122 Phenotypes for gene: RREB1 were set to RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay

DDG2P Gene: RREB1