Hypertrophic cardiomyopathy
Gene: NRAS
NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
2 reviews
Rebecca Whittington (South West GLH)
Noonan syndrome 6 (613224)Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. In HGMD mainly associated with Noonans/Costello syndromeCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic short stature
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Fetal anomalies
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary lymphoedema
- Neurological segmental overgrowth
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to NRAS. Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list