Vascular Malformations_Germline
Gene: NRAS
Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.Created: 21 Jan 2020, 1:04 a.m. | Last Modified: 21 Jan 2020, 1:04 a.m.
Panel Version: 0.31
Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome.
Sources: Expert listCreated: 21 Jan 2020, 1:03 a.m.
Mode of inheritance
Other
Phenotypes
Kaposiform lymphangiomatosis; Sporadic vascular malformation
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: nras has been classified as Red List (Low Evidence).
Gene: nras has been classified as Red List (Low Evidence).
Tag somatic tag was added to gene: NRAS.
gene: NRAS was added gene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: NRAS was set to Other Publications for gene: NRAS were set to 30542204; 29461977 Phenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: NRAS was set to GREEN