Vascular Malformations_Germline
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panelCreated: 20 Jan 2020, 10:39 p.m. | Last Modified: 20 Jan 2020, 10:39 p.m.
Panel Version: 0.18
Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome.
Sources: Expert listCreated: 20 Jan 2020, 10:38 p.m.
Mode of inheritance
Other
Phenotypes
Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Extracranial arteriovenous malformations
- Vascular malformation/overgrowth syndromes
- Tags
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hras has been classified as Red List (Low Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: HRAS was added gene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: HRAS. Mode of inheritance for gene: HRAS was set to Other Publications for gene: HRAS were set to 31637524; 31160609; 30208313 Phenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes Mode of pathogenicity for gene: HRAS was set to Other Review for gene: HRAS was set to GREEN