Sarcoma soft tissue
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Soft-tissue sarcomas reported in condition. GOF variants.
Sources: Expert list, Expert ReviewCreated: 17 Sep 2024, 10:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Costello syndrome, MONDO:0009026; Costello syndrome, MIM#218040
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Soft tissue sarcoma, MONDO:0018078
- Sarcoma, MONDO:0005089
- Costello syndrome, MONDO:0009026
- Costello syndrome, MIM#218040
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Muscular dystrophy and myopathy_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: hras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Chirag Patel (Genetic Health Queensland)gene: HRAS was added gene: HRAS was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Costello syndrome, MONDO:0009026; Costello syndrome, MIM#218040 Mode of pathogenicity for gene: HRAS was set to Other Review for gene: HRAS was set to GREEN