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| Aortopathy_Connective Tissue Disorders v1.79 | ARIH1 | Zornitza Stark Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.48 | ARIH1 | Bryony Thompson Marked gene: ARIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.48 | ARIH1 | Bryony Thompson Gene: arih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.48 | ARIH1 | Bryony Thompson Classified gene: ARIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.48 | ARIH1 | Bryony Thompson Gene: arih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.47 | ARIH1 |
Bryony Thompson gene: ARIH1 was added gene: ARIH1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other 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: Other |
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