RASopathies
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 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)
Gain of function mutations. 2 common mutations p.Thr50Ile; p.Gly60GluCreated: 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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Noonan syndrome 6 613224
- Cardio-Facio-cutanenous syndrome
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- 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
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- Fetal anomalies
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
History Filter Activity
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
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NRAS were set to PMID: 19966803; 19775298
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NRAS were set to Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome; CFC Syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NRAS were set to Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NRAS were set to PMID: 19966803; 19775298
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NRAS were set to PMID: 19966803
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
clearsources
Ellen McDonagh (Genomics England Curator)NRASAll sources for gene: NRAS were removed
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to RASopathiespanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to RASopathiespanel. Source: UKGTN
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
Created
Ellen McDonagh (Genomics England Curator)NRAS was created by ellenmcdonagh