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