Thoracic aortic aneurysm and dissectionGene: ARIH1
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.
Created: 14 Sep 2021, 10:16 a.m. | Last Modified: 14 Sep 2021, 10:16 a.m.
Panel Version: 1.18
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.
Created: 9 Sep 2021, 10:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm
Gene: arih1 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: ARIH1.
Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396
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