Mosaic skin disorders - deep sequencing
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Q61R, P34L, G12DCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Melanocytic naevi (162900); Congenital melanocytic naevus syndrome; Noonan syndrome (613224)
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
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NRAS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Congenital melanocytic naevus syndrome
- Melanocytic naevi
- Noonan syndrome
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Fetal hydrops
- Early onset or syndromic epilepsy
- Hydrocephalus
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene NRAS were changed from to 22499344; 10878667; 24006476
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NRAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NRAS was added gene: NRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome