Comment on list classification: Rating Red as currently only a single individuals reported (PMID:32938917) with clinical features consistent with a Noonan-spectrum disorder and a 6p-interstitial microdeletion which encompassed 11 genes, including RREB1. Additional cases would help delineate the relevance of the RREB1 gene to the observed phenotype.
Created: 7 Oct 2020, 2:48 p.m. | Last Modified: 7 Oct 2020, 2:48 p.m.
Panel Version: 1.62
Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes. In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association.
Created: 5 Oct 2020, 8:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Noonan syndrome-like disorder
Gene: rreb1 has been classified as Red List (Low Evidence).
gene: RREB1 was added gene: RREB1 was added to RASopathies. Sources: Literature Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RREB1 were set to 32938917 Phenotypes for gene: RREB1 were set to Noonan syndrome-like disorder Review for gene: RREB1 was set to RED