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Cytopenia - NOT Fanconi anaemia
Gene: RRAS

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 12:24 p.m. | Last Modified: 6 Dec 2024, 12:26 p.m.

Panel Version: 3.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Dec 2024, 12:24 p.m.
Last Modified: 6 Dec 2024, 12:26 p.m.
Panel version: 3.36

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, 3:06 p.m. | Last Modified: 15 Apr 2024, 3:06 p.m.

Panel Version: 3.30

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, 3:04 p.m. | Last Modified: 15 Apr 2024, 3:04 p.m.

Panel Version: 3.30

Comment on phenotypes: RRAS-related atypical Noonan syndrome phenotype from Gen2Phen
Created: 15 Apr 2024, 1:50 p.m. | Last Modified: 15 Apr 2024, 1:50 p.m.

Panel Version: 3.30

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

Publications

Created: 15 Apr 2024, 1:50 p.m.
Last Modified: 15 Apr 2024, 1:50 p.m.
Panel version: 3.30

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

34935735 describes a new case and provides info from 3 cases from the literature with RASopathy AND pediatric MDS. Only de novo missense variants were found. Therefore, enough evidence for green rating.
Sources: Literature
Created: 21 Jan 2023, 5:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pediatric Myelodysplastic Syndrome

Publications

PMID: 34935735

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: 21 Jan 2023, 5:28 p.m.

Panel version: 2.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

RRAS-related atypical Noonan syndrome

Tags

gene-checked

OMIM

165090

Clinvar variants

Variants in RRAS

Penetrance

unknown

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

11 Dec 2024, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

6 Dec 2024, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: RRAS.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

15 Apr 2024, Gel status: 2