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  2. Monogenic short stature
  3. RRAS2
STRs in panel
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Monogenic short stature

Gene: RRAS2

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

3 reviews

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Created: 31 Jan 2023, 5:28 p.m.
Last Modified: 31 Jan 2023, 5:28 p.m.
Copied from panel: Growth failure in early childhood v3.77

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 30 Sep 2021, 10:33 a.m. | Last Modified: 30 Sep 2021, 10:33 a.m.
Panel Version: 1.72
Created: 30 Sep 2021, 10:33 a.m.
Last Modified: 30 Sep 2021, 10:33 a.m.
Copied from panel: Growth failure in early childhood v3.77

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported, GoF variants.
Sources: Expert Review
Created: 18 Aug 2021, 9:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 12, MIM #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: 18 Aug 2021, 9:44 a.m.

Copied from panel: Growth failure in early childhood v3.77

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 12, OMIM: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

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: RRAS2 was added gene: RRAS2 was added to Monogenic short stature. Sources: Expert Review Green,Expert Review,NHS GMS 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 Mode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments