Familial and multiple pulmonary arteriovenous malformations
Gene: RASA1Comment 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.
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.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for RASA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Phenotypes for RASA1 were set to Capillary malformation-arteriovenous malformation 608354
RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Emory Genetics Laboratory
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
RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
RASA1All sources for gene: RASA1were removed
RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
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
RASA1 was created by ellenmcdonagh
RASA1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing