IUGR and IGF abnormalities
Gene: NRAS
NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
1 review
emma baple (Genomics England Curator)
Comment on mode of pathogenicity: A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)Created: 10 May 2016, 10:40 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- Publications
-
- Nat Genet. 42: 27-29, 2010
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Monogenic short stature
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary lymphoedema
- Neurological segmental overgrowth
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Hereditary neuropathy
- RASopathies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
- Fetal anomalies
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set publications
emma baple (Genomics England Curator)Publications for NRAS were set to Nat Genet. 42: 27-29, 2010
10 May 2016, Gel status: 4
Set mode of pathogenicity
emma baple (Genomics England Curator)Mode of pathogenicity for NRAS was changed to Other - please provide details in the comments
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 0
Created
emma baple (Genomics England Curator)NRAS was created by ebapleC
10 May 2016, Gel status: 0
Added New Source
emma baple (Genomics England Curator)NRAS was added to IUGR and IGF abnormalitiespanel. Sources: Other