Cytopenias and congenital anaemias
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
2 reviews
Helen Brittain (Genomics England Curator)
Germline mutations in Noonan syndrome. Somatic mutations of the rasopathy genes are implicated in haematological malignancy but this is out of scope for the panel.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 6 613224
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Cytopenias and congenital anaemias
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Early onset or syndromic epilepsy
- Hydrocephalus
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Multiple monogenic benign skin tumours
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- RASopathies
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)NRAS was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Louise Daugherty (Genomics England Curator)NRAS was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)NRAS was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)