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DDG2P

Gene: RRAS

Green List (high evidence)
RRAS (RAS related)
EnsemblGeneIds (GRCh38): ENSG00000126458
EnsemblGeneIds (GRCh37): ENSG00000126458
OMIM: 165090, Gene2Phenotype
RRAS is in 5 panels

5 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene on this panel, is governed by guidance of Gen2Phen.
Created: 25 Sep 2024, 8:34 a.m. | Last Modified: 25 Sep 2024, 8:34 a.m.
Panel Version: 4.8
Created: 25 Sep 2024, 8:34 a.m.
Last Modified: 25 Sep 2024, 8:34 a.m.
Panel version: 4.8

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

There is only one report of 2 cases with a Noonan-like syndrome and variants in this gene. Insufficient evidence presented in the paper to be sure these are pathogenic: one is now seen in gnomadv4.1 in 39hets. There are also some variants recorded in Decipher but all are either unclassified, likely benign or VUS. This gene doesn't fulfil criteria to be green in the R27 panel yet, suggest downgrade to amber: currently it is included as it is green in the DDG2P panel.
Created: 17 Jul 2024, 2:03 p.m. | Last Modified: 17 Jul 2024, 2:03 p.m.
Panel Version: 4.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan-like

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jul 2024, 2:03 p.m.
Last Modified: 17 Jul 2024, 2:03 p.m.
Panel version: 4.6

Eleanor Williams (Genomics England Curator)

This gene currently no disease phenotype in OMIM, so checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=674
Created: 16 Oct 2023, 7:19 p.m. | Last Modified: 16 Oct 2023, 7:19 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 7:19 p.m.
Last Modified: 16 Oct 2023, 7:19 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease ATYPICAL NOONAN SYNDROME is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24705357).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ATYPICAL NOONAN SYNDROME

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: activating
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ATYPICAL NOONAN SYNDROME
Tags
gene-checked
OMIM
165090
Clinvar variants
Variants in RRAS
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RRAS.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RRAS. Mode of pathogenicity for gene RRAS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RRAS was added gene: RRAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS were set to 24705357 Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME Mode of pathogenicity for gene: RRAS was set to Other - please provide details in the comments