RASopathies

Gene: RRAS

Amber List (moderate evidence)

RRAS (RAS related)
EnsemblGeneIds (GRCh38): ENSG00000126458
EnsemblGeneIds (GRCh37): ENSG00000126458
OMIM: 165090, Gene2Phenotype
RRAS is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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 list
Created: 3 Jul 2020, 10:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Noonan syndrome
OMIM
165090
Clinvar variants
Variants in RRAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rras has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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