Familial and multiple pulmonary arteriovenous malformations
Gene: RASA1EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 11 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert input regarding the phenotype not being relevant to this panel.Created: 14 Dec 2016, 9:56 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported in cases of capillary malformation with arteriovenous malformation.Created: 13 Dec 2016, 2:13 p.m.
Comment on phenotypes: Also associated with Parkes Weber syndrome, 608355; Basal cell carcinoma, somatic, 605462Created: 13 Dec 2016, 2:02 p.m.
Claire Shovlin (Imperial College London)
Pulmonary AVMs are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT). To the best of my knowledge, at present the RASA1 phenotypic spectrum is distinct from the HHT spectrum, displaying different types of telangiectasia and different patterns of arteriovenous malformations (PMID: 18446851), but this may change in the future. PMID: 23687085 is noted. Pulmonary AVMs require radiological confirmation (usually by thoracic CT Scan, chest x-ray or angiography) to distinguish to functional intrapulmonary shunts detectable in high proportions of the general population by contrast echocardiography
Created: 13 Nov 2016, 11:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Capillary malformation-arteriovenous malformation 608354
- OMIM
- 139150
- Clinvar variants
- Variants in RASA1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RASA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RASA1 were set to Capillary malformation-arteriovenous malformation 608354
Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RASA1 were set to Parkes Weber syndrome, 608355; Capillary malformation-arteriovenous malformation, 608354; Basal cell carcinoma, somatic, 605462; Capillary Malformation-Arteriovenous Malformation Syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
clearsources
Ellen McDonagh (Genomics England Curator)RASA1All sources for gene: RASA1were removed
Upload gene information
Ellen McDonagh (Genomics England Curator)RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)RASA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing