Hereditary neuropathy
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Panels with this gene
-
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Fetal anomalies
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Arthrogryposis
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
History Filter Activity
29 Apr 2019, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: HRAS
29 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HRAS.
29 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HRAS.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HRAS was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory