This Panel is marked as Internal
Sudden cardiac death - previous panel
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
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- London South GLH
- Expert Review Green
- Phenotypes
-
- CFC Syndrome
- Noonan syndrome
- syndromic HCM
- Noonan syndrome 6
- Cardio-Facio-cutanenous syndrome
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- 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
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- Monogenic short stature
- Fetal hydrops
- Hydrocephalus
- Childhood solid tumours
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: NRAS was added gene: NRAS was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to 19775298; 19966803 Phenotypes for gene: NRAS were set to CFC Syndrome; Noonan syndrome; syndromic HCM; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments