Vascular Malformations_Germline

Gene: HRAS

Red List (low evidence)

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel
Created: 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 list
Created: 20 Jan 2020, 10:38 p.m.

Mode of inheritance
Other

Phenotypes
Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes

Publications

Mode of pathogenicity
Other

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hras has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hras has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

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