Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v1.368 RREB1 Zornitza Stark Publications for gene: RREB1 were set to 32938917; 38332451
Fetal anomalies v1.365 RREB1 Chirag Patel Classified gene: RREB1 as Green List (high evidence)
Fetal anomalies v1.365 RREB1 Chirag Patel Gene: rreb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.364 RREB1 Chirag Patel reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.288 RREB1 Krithika Murali Marked gene: RREB1 as ready
Fetal anomalies v1.288 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.288 RREB1 Krithika Murali Publications for gene: RREB1 were set to 32938917; 38332451
Fetal anomalies v1.287 RREB1 Krithika Murali Publications for gene: RREB1 were set to PMID: 32938917; 38332451
Fetal anomalies v1.286 RREB1 Krithika Murali Classified gene: RREB1 as Amber List (moderate evidence)
Fetal anomalies v1.286 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.285 RREB1 Krithika Murali gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. 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: 32938917; 38332451
Phenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related
Review for gene: RREB1 was set to AMBER
Added comment: PMID 38332451: de novo LoF variant in an individual with Noonan syndrome-like features. No prenatal phenotype reported in this individual, however, prenatal phenotype has been reported with other RASopathies.
Sources: Literature