Sarcoma susceptibility
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome, 218040
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
-
- NHS GMS
- Expert Review Amber
- Literature
- Expert Review Amber
- Phenotypes
-
- Costello syndrome, OMIM:218040
- Rhabdomyosarcoma (disease), MONDO:0005212
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Pneumothorax - familial
- Neurological segmental overgrowth
- Fetal hydrops
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Congenital myopathy
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- DDG2P
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- Mosaic skin disorders - Deep sequencing
- Arthrogryposis
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood solid tumours
- Multiple monogenic benign skin tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, OMIM:218040; Rhabdomyosarcoma (disease), MONDO:0005212
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to HRAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HRAS was added gene: HRAS was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HRAS were set to Costello syndrome, 218040