Cerebral vascular malformations
Gene: RASA1Comment on phenotypes: Previous phenotypes:
Capillary malformation-arteriovenous malformation 1, OMIM:608354;Parkes Weber syndrome, 608355;Parkes Weber syndrome (PKWS);Capillary Malformation-Arteriovenous Malformation Syndrome;Parkes Weber Syndrome;Parkes Weber syndromeCreated: 25 Mar 2021, 2:23 p.m. | Last Modified: 25 Mar 2021, 2:23 p.m.
Panel Version: 2.17
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:59 p.m. | Last Modified: 29 Nov 2019, 6:59 p.m.
Panel Version: 1.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation 608354, Parkes Weber syndrome 608355
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation, 608354; Parkes Weber syndrome, 608355; Parkes Weber syndrome (PKWS); Capillary Malformation-Arteriovenous Malformation Syndrome; Parkes Weber Syndrome; Parkes Weber syndrome to Capillary malformation-arteriovenous malformation 1, OMIM:608354
Source Yorkshire and North East GLH was added to RASA1.
Source NHS GMS was added to RASA1.
Publications for RASA1 were set to 14639529
Publications for RASA1 were set to
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
RASA1 was added to Cerebrovascular disorderspanel. Source: Other
RASA1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
RASA1 was added to Cerebrovascular disorderspanel. Source: UKGTN Model of inheritance for gene RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RASA1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
RASA1 was created by ellenmcdonagh