Sudden cardiac death - previous panel
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- London South GLH
- Expert Review Green
- Phenotypes
-
- Costello syndrome
- syndromic HCM
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- 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
-
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Intellectual disability
- Monogenic short stature
- Fetal hydrops
- Arthrogryposis
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Pneumothorax - familial
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 21396583; 16443854; 16969868; 16170316 Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments