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  2. Growth failure in early childhood
  3. RRAS2
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Growth failure in early childhood

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.
Panel version: 2.33

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.
Panel version: 1.72

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.

Panel version: 1.71

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • 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

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q3_21_rating was removed from gene: RRAS2.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to RRAS2. Source NHS GMS was added to RRAS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Sep 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

30 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rras2 has been classified as Amber List (Moderate Evidence).

30 Sep 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: RRAS2.

18 Aug 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RRAS2 was added gene: RRAS2 was added to Growth failure in early childhood. Sources: Expert Review 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, MIM #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 Review for gene: RRAS2 was set to GREEN