Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ARIH1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: ARIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ARIH1 | Arina Puzriakova reviewed gene: ARIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Classified gene: ARIH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Gene: arih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.17 | ARIH1 | Ivone Leong Tag Q3_21_rating tag was added to gene: ARIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.17 | ARIH1 | Ivone Leong Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.16 | ARIH1 |
Zornitza Stark gene: ARIH1 was added gene: ARIH1 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: ARIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARIH1 were set to 29689197; 32102558 Phenotypes for gene: ARIH1 were set to Thoracic aortic aneurysm Review for gene: ARIH1 was set to GREEN Added comment: 3 unrelated families: A de novo case (R171*) with thoracic aortic aneurysm (TAA), and 2 siblings with TAA and a missense (E15Q). Another proband with cerebrovascular aneurysm (family history of TAA) and a missense variant (E44G). Supporting functional assays of the variants and a Drosophila model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||