Primary lymphoedema
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:46 p.m. | Last Modified: 27 Jun 2019, 3:46 p.m.
Panel Version: 1.64
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function.Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 6 613224
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan syndrome 6 613224
- 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
-
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Hydrocephalus
- Childhood solid tumours
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Neurological segmental overgrowth
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NRAS were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)gene: NRAS was added gene: NRAS was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224 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