Growth failure in early childhood
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome; CFC Syndrome
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Noonan syndrome 6, OMIM: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
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NRAS were changed from Noonan syndrome; CFC Syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome 6; Cardio-Facio-cutanenous syndrome to Noonan syndrome 6, OMIM:613224
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010
Set mode of pathogenicity, Set Phenotypes
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome; CFC Syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome for gene: NRAS
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: NRAS was added gene: NRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010 Phenotypes for gene: NRAS were set to A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.) Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments