Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: RRAS

Red List (low evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) associated to Atypical Noonan syndrome, which has been observed in two unrelated cases PMID: 24705357. The main clinical phenotype are cardiovascular defects and other associated features include mild intellectual deficit.
Created: 18 Dec 2017, 3:39 p.m.

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

Phenotypes
Atypical Noonan syndrome; Noonan syndrome-like

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ATYPICAL NOONAN SYNDROME

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: 2 individuals reported to date. Require replication before diagnostic grade
Created: 8 Feb 2016, 12:37 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Atypical Noonan syndrome
  • Noonan syndrome-like
OMIM
165090
Clinvar variants
Variants in RRAS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RRAS was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RRAS was created by ellenmcdonagh