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
-
- Adult solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Arthrogryposis
- Pneumothorax - familial
- Neurological segmental overgrowth
- Pigmentary skin disorders
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Familial rhabdomyosarcoma
- Hereditary neuropathy or pain disorder
- Sarcoma of possible germline origin
- Monogenic short stature
- Hereditary neuropathy
- Congenital myopathy
- RASopathies
- IUGR and IGF abnormalities
- DDG2P
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Mosaic skin disorders - Deep sequencing
- Sarcoma susceptibility
- Fetal anomalies
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
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