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| Inherited bleeding disorders v1.138 | ACVRL1 | Louise Daugherty Classified gene: ACVRL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.138 | ACVRL1 | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.138 | ACVRL1 | Louise Daugherty Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.137 | ACVRL1 | Louise Daugherty Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.136 | ACVRL1 | Louise Daugherty Added comment: 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 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.136 | ACVRL1 | Louise Daugherty Publications for gene: ACVRL1 were set to 8640225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.135 | ACVRL1 | Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.134 | ACVRL1 | Louise Daugherty Added comment: Comment on phenotypes: added the OMIM MIMid | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.134 | ACVRL1 | Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 to Telangiectasia, hereditary hemorrhagic, type 2, 600376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.133 | ACVRL1 |
Louise Daugherty 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 Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018. Sources: Expert list |
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