RASopathies
Gene: RRAS2
Comment on mode of pathogenicity: All variants reported increase activation of the MAPK cascade.Created: 5 Aug 2020, 11 a.m. | Last Modified: 5 Aug 2020, 11 a.m.
Panel Version: 1.60
Comment on list classification: At least nine unrelated pedigrees with Noonan syndrome, associated with monoallelic variants in this gene.Created: 5 Aug 2020, 10:58 a.m. | Last Modified: 5 Aug 2020, 10:58 a.m.
Panel Version: 1.59
Associated with Noonan syndrome in OMIM and G2P (confirmed).
PMID: 31130282 (2019) - Six unrelated families with Noonan syndrome associated with heterozygous variants in the RRAS2 gene (5 de novo, 1 segregating variant in a family with four affected relatives). No other candidate variants were identified. Supporting functional data.
PMID: 31130285 (2019) - Three unrelated individuals with Noonan syndrome, harbouring de novo activating variants in the RRAS2 gene. Supporting functional analysis and zebrafish model.Created: 5 Aug 2020, 10:57 a.m. | Last Modified: 5 Aug 2020, 10:57 a.m.
Panel Version: 1.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 12, 618624
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Six unrelated families reported
Sources: Expert listCreated: 3 Jul 2020, 10:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 12, OMIM #618624
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RRAS2 were set to 31130282
Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12, OMIM #618624 to Noonan syndrome 12, 618624
Mode of pathogenicity for gene: RRAS2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: rras2 has been classified as Green List (High Evidence).
gene: RRAS2 was added gene: RRAS2 was added to RASopathies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS2 were set to 31130282 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, OMIM #618624 Review for gene: RRAS2 was set to GREEN gene: RRAS2 was marked as current diagnostic