RASopathies

Gene: NRAS

Green List (high evidence)

NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 26 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Gain of function variants suggested by reviewer, and G2P indicates activating consequence of mutations. Comments from Reviewer: Gain of functions mutations in NRAS are a rare cause of Noonan syndrome and may also be associated with CFC. To date, two mutations have been reported to cause Noonan syndrome: p.Thr50Ile; p.Gly60Glu. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:01 a.m. Gain of function mutations in NRAS cause Noonan syndrome and Cardio-Facio-cutanenous syndrome. This disorders share phenotypes with Legius syndrome. No reports of mutations in NRAS causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:44 a.m. Two gain of functions mutations in NRAS (p.Thr50Ile; p.Gly60Glu) reported to cause Noonan syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:06 p.m.
Created: 5 Feb 2016, 12:31 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P, and not on imprinted gene list.
Created: 4 Feb 2016, 5:12 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations. 2 common mutations p.Thr50Ile; p.Gly60Glu
Created: 1 Feb 2016, 10:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardio-Facio-cutanenous syndrome; Noonan syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

History Filter Activity

8 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NRAS were changed from Noonan syndrome 6 613224; Cardio-Facio-cutanenous syndrome; CFC Syndrome to Noonan syndrome 6 613224; Cardio-Facio-cutanenous syndrome

13 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NRAS were changed from Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome; CFC Syndrome to Noonan syndrome 6 613224; Cardio-Facio-cutanenous syndrome; CFC Syndrome

13 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NRAS were set to PMID: 19966803; 19775298

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NRAS were set to Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome; CFC Syndrome

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NRAS were set to Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NRAS were set to PMID: 19966803; 19775298

4 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NRAS were set to PMID: 19966803

4 Feb 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for NRAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene NRAS were set to Noonan syndrome;Noonan syndrome 6; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome

2 Feb 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN

2 Feb 2016, Gel status: 6

clearsources

Ellen McDonagh (Genomics England Curator)

NRASAll sources for gene: NRAS were removed

18 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory

18 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory

18 Nov 2015, Gel status: 5

Added New Source

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Source: UKGTN

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Source: UKGTN

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NRAS was added to RASopathiespanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NRAS was created by ellenmcdonagh