Sarcoma susceptibility
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 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
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- DDG2P
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
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