Inherited bleeding disorders
Gene: ACVRL1
Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.Created: 20 Sep 2018, 1:06 p.m.
Comment on publications: Added publications to support upgrading of the gene to Green. More than three unrelated cases in a range of ethnicities has been reported for HHT type 2Created: 20 Sep 2018, 1:01 p.m.
Comment on phenotypes: added the OMIM MIMidCreated: 20 Sep 2018, 10:43 a.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert listCreated: 20 Sep 2018, 10:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2
Publications
Gene: acvrl1 has been classified as Green List (High Evidence).
Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682
Publications for gene: ACVRL1 were set to 8640225
Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder
Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 to Telangiectasia, hereditary hemorrhagic, type 2, 600376
gene: ACVRL1 was added gene: ACVRL1 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were set to 8640225 Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 Review for gene: ACVRL1 was set to GREEN