RASopathies
Gene: RRAS
RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.Created: 15 Apr 2024, 3:08 p.m. | Last Modified: 15 Apr 2024, 3:08 p.m.
Panel Version: 1.79
Comment on phenotypes: Phenotype from Gen2PhenCreated: 15 Apr 2024, 3:06 p.m. | Last Modified: 15 Apr 2024, 3:06 p.m.
Panel Version: 1.79
Publications
Comment on list classification: Rated Amber as additional cases required to validate the causal association with the phenotype.
Currently not associated with any phenotype in OMIM but a probable gene for Atypical Noonan Syndrome in G2P.Created: 5 Aug 2020, 12:27 p.m. | Last Modified: 5 Aug 2020, 12:27 p.m.
Panel Version: 1.61
Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen.
Sources: Expert listCreated: 3 Jul 2020, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome
Publications
Gene: rras has been classified as Green List (High Evidence).
Tag Q2_24_promote_green was removed from gene: RRAS.
Tag Q2_24_promote_green tag was added to gene: RRAS.
Publications for gene: RRAS were set to 24705357
Phenotypes for gene: RRAS were changed from Noonan syndrome to RRAS-related atypical Noonan syndrome
Gene: rras has been classified as Amber List (Moderate Evidence).
gene: RRAS was added gene: RRAS was added to RASopathies. Sources: Expert list Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS were set to 24705357 Phenotypes for gene: RRAS were set to Noonan syndrome Review for gene: RRAS was set to AMBER