Segmental overgrowth disorders - Deep sequencing
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
-
- Other
- Phenotypes
-
- Hemimegalencephaly
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
- 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
- DDG2P
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Fetal hydrops
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
28 Nov 2016, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
7 Nov 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)NRAS was added to Regional overgrowth disorderspanel. Sources: Other
7 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)NRAS was created by rfoulger