Cerebral vascular malformations
Gene: RASA1
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
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
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