Familial rhabdomyosarcoma
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
1 review
Helen Brittain (Genomics England Curator)
Causation is clear. Rhabdomyosarcomas are a reported complication. Arguably should present through other syndromic features prior to this however. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome, 218040
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Costello syndrome, 218040
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Panels with this gene
-
- Congenital myopathy
- DDG2P
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Early onset or syndromic epilepsy
- Familial rhabdomyosarcoma
- Paediatric or syndromic cardiomyopathy
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Embryonal tumour of possible germline origin
- Multiple monogenic benign skin tumours
- Arthrogryposis
- Sarcoma susceptibility
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Pneumothorax - familial
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for HRAS were set to Costello syndrome, 218040
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)HRAS was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)HRAS was created by Louise Daugherty