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  3. RRAS
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RASopathies

Gene: RRAS

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

3 reviews

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: 1.79
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: 1.79

Publications

Created: 15 Apr 2024, 3:06 p.m.
Last Modified: 15 Apr 2024, 3:06 p.m.
Panel version: 1.79

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
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

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

Panel version: 1.55

Details

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

History Filter Activity

15 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rras has been classified as Green List (High Evidence).

15 Apr 2024, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green was removed from 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 publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RRAS were set to 24705357

15 Apr 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

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