Fetal hydrops
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on mode of pathogenicity: Listed as Gain of function on RASopathies panel.Created: 21 Dec 2016, 2:52 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Phenotypes
-
- Noonan syndrome
- Noonan syndrome 6
- Cardio-Facio-cutanenous syndrome
- CFC Syndrome
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- 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
-
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Monogenic short stature
- Intellectual disability
- Hydrocephalus
- Childhood solid tumours
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Neurological segmental overgrowth
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for NRAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Upload gene information
Rebecca Foulger (Genomics England curator)NRAS was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
Added New Source
Rebecca Foulger (Genomics England curator)NRAS was added to Fetal hydropspanel. Sources: Expert Review Green
Created
Rebecca Foulger (Genomics England curator)NRAS was created by rfoulger