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Vascular Malformations_Somatic

Gene: KRAS

Green List (high evidence)
KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies.
Sources: Expert list
Created: 20 Jan 2020, 11:31 p.m.

Mode of inheritance
Other

Phenotypes
Arteriovenous malformation of the brain, somatic 108010; Vascular malformation

Publications

Mode of pathogenicity
Other

Created: 20 Jan 2020, 11:31 p.m.
Last Modified: 1 Jul 2020, 11:31 p.m.
Panel version: Imported from Inherited Vascular Malformations panel version 0.21

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kras has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: KRAS.

1 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRAS was added gene: KRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: KRAS was set to Other Publications for gene: KRAS were set to 30677207; 30544177; 31160609 Phenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation Mode of pathogenicity for gene: KRAS was set to Other