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Fetal anomalies

Gene: RRAS

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

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

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

G2P gene, green gene on R27. 3 cases with Noonan-like phenotype.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

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

Phenotypes
Noonan syndrome

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

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 3.151
Comment on phenotypes: Phenotype from Gen2Phen
Created: 15 Apr 2024, 3:06 p.m. | Last Modified: 15 Apr 2024, 3:06 p.m.
Panel Version: 3.151

Publications

Created: 15 Apr 2024, 3:06 p.m.
Last Modified: 15 Apr 2024, 3:06 p.m.
Panel version: 3.151

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for ATYPICAL NOONAN SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Noonan syndrome, MONDO:0018997
Tags
gene-checked
OMIM
165090
Clinvar variants
Variants in RRAS
Penetrance
None
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
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: RRAS. Tag Q1_25_ promote_green was removed from gene: RRAS.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RRAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: RRAS.

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997; RRAS-related atypical Noonan syndrome to Noonan syndrome, MONDO:0018997

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to RRAS. Mode of pathogenicity for gene RRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome, MONDO:0018997 for gene: RRAS Publications for gene: RRAS were updated from 24705357; 32815881; 34935735 to 34935735; 32815881; 24705357

11 Dec 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

15 Apr 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: RRAS.

15 Apr 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to RRAS-related atypical Noonan syndrome

15 Apr 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RRAS were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RRAS was added gene: RRAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME