Cerebral vascular malformations
Gene: RASA1EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Louise Daugherty (Genomics England Curator)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Other
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Capillary malformation-arteriovenous malformation 1, OMIM:608354
- OMIM
- 139150
- Clinvar variants
- Variants in RASA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to RASA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RASA1.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RASA1 were set to 14639529
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RASA1 were set to
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Cerebrovascular disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Cerebrovascular disorderspanel. Source: UKGTN Model of inheritance for gene RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)RASA1 was created by ellenmcdonagh