Cerebral vascular malformations

Gene: RASA1

Green List (high evidence)

RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association with CVMs reported in multiple affected individuals.
Created: 18 Nov 2024, 2:07 a.m. | Last Modified: 18 Nov 2024, 2:07 a.m.
Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary Malformation-Arteriovenous Malformation Syndrome MONDO:0012016

Publications

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

A well-reported disease gene for capillary malformation-arteriovenous malformation.

A somatic second hit has been proposed for the vascular lesion formation (PMIDs: 24038909; 29891884).
Created: 20 Apr 2020, 5:23 a.m. | Last Modified: 20 Apr 2020, 5:23 a.m.
Panel Version: 0.2416

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 1, MIM#608354

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Parkes Weber syndrome
  • Capillary malformation-arteriovenous malformation, 608354
  • Parkes Weber Syndrome
  • Parkes Weber syndrome (PKWS)
  • Parkes Weber syndrome, 608355
  • Capillary Malformation-Arteriovenous Malformation Syndrome
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASA1 was added gene: RASA1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA1 were set to 14639529 Phenotypes for gene: RASA1 were set to Parkes Weber syndrome; Capillary malformation-arteriovenous malformation, 608354; Parkes Weber Syndrome; Parkes Weber syndrome (PKWS); Parkes Weber syndrome, 608355; Capillary Malformation-Arteriovenous Malformation Syndrome