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  3. RRAS
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Rasopathy

Gene: RRAS

Amber List (moderate evidence)
RRAS (RAS related)
EnsemblGeneIds (GRCh38): ENSG00000126458
EnsemblGeneIds (GRCh37): ENSG00000126458
OMIM: 165090, Gene2Phenotype
RRAS is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 3 Jul 2020, 10:09 a.m. | Last Modified: 3 Jul 2020, 10:09 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Publications

Created: 3 Jul 2020, 10:09 a.m.
Last Modified: 3 Jul 2020, 10:09 a.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome
OMIM
165090
Clinvar variants
Variants in RRAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rras has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RRAS were changed from to Noonan syndrome

3 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RRAS were set to

3 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rras has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RRAS was added gene: RRAS was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RRAS was set to Unknown