Vascular Malformations_Germline
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Kaposiform lymphangiomatosis
- Sporadic vascular malformation
- Tags
- 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
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- Vasculitis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Congenital Heart Defect
- Autoimmune Lymphoproliferative Syndrome
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nras has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nras has been classified as Red List (Low Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag somatic tag was added to gene: NRAS.
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