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RASopathies

Gene: RRAS2

Green List (high evidence)
RRAS2 (RAS related 2)
EnsemblGeneIds (GRCh38): ENSG00000133818
EnsemblGeneIds (GRCh37): ENSG00000133818
OMIM: 600098, Gene2Phenotype
RRAS2 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on mode of pathogenicity: All variants reported increase activation of the MAPK cascade.
Created: 5 Aug 2020, 11 a.m. | Last Modified: 5 Aug 2020, 11 a.m.
Panel Version: 1.60
Comment on list classification: At least nine unrelated pedigrees with Noonan syndrome, associated with monoallelic variants in this gene.
Created: 5 Aug 2020, 10:58 a.m. | Last Modified: 5 Aug 2020, 10:58 a.m.
Panel Version: 1.59
Associated with Noonan syndrome in OMIM and G2P (confirmed).

PMID: 31130282 (2019) - Six unrelated families with Noonan syndrome associated with heterozygous variants in the RRAS2 gene (5 de novo, 1 segregating variant in a family with four affected relatives). No other candidate variants were identified. Supporting functional data.

PMID: 31130285 (2019) - Three unrelated individuals with Noonan syndrome, harbouring de novo activating variants in the RRAS2 gene. Supporting functional analysis and zebrafish model.
Created: 5 Aug 2020, 10:57 a.m. | Last Modified: 5 Aug 2020, 10:57 a.m.
Panel Version: 1.58

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

Phenotypes
Noonan syndrome 12, 618624

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: 5 Aug 2020, 10:57 a.m.
Last Modified: 5 Aug 2020, 10:57 a.m.
Panel version: 1.58

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported
Sources: Expert list
Created: 3 Jul 2020, 10:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 12, OMIM #618624

Publications

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

Created: 3 Jul 2020, 10:14 a.m.

Panel version: 1.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome 12, 618624
OMIM
600098
Clinvar variants
Variants in RRAS2
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

8 Oct 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RRAS2 were set to 31130282

8 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12, OMIM #618624 to Noonan syndrome 12, 618624

5 Aug 2020, Gel status: 3

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: RRAS2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

5 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rras2 has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RRAS2 was added gene: RRAS2 was added to RASopathies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS2 were set to 31130282 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, OMIM #618624 Review for gene: RRAS2 was set to GREEN gene: RRAS2 was marked as current diagnostic