This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Noonan syndrome
- Noonan syndrome 6, 613224
- Neurocutaneous melanosis, somatic, 249400
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Fetal hydrops
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
11 May 2017, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)NRAS was added to Undiagnosed neurocutaneous disorderspanel. Source: Literature
8 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for NRAS were set to Noonan syndrome; Noonan syndrome 6, 613224; Neurocutaneous melanosis, somatic, 249400
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to Undiagnosed neurocutaneous disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NRAS was created by ellenmcdonagh