Vascular Malformations_Germline

Gene: NRAS

Red List (low evidence)

NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 18 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
somatic
OMIM
164790
Clinvar variants
Variants in NRAS
Penetrance
None
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
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Jan 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag somatic tag was added to gene: NRAS.

21 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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