Neurological segmental overgrowth
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
- Sources
-
- Expert Review Red
- Phenotypes
-
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
- Hemimegalencephaly
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- None
- 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
31 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: NRAS was added gene: NRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: NRAS was set to Phenotypes for gene: NRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly