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| Thoracic aortic aneurysm or dissection v1.90 | ATP6V0A2 | Rebecca Whittington commented on gene: ATP6V0A2: 219200 Cutis laxa; 278250 wrinkly skin syndrome; no cardiac phenotype but some overlapping skin/joint laxity features with MFS/EDS type syndromes. Over 40 variants associated with cutis laxa on HGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | ATP6V0A2 | Rebecca Whittington reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | ATP6V0A2 |
Ellen McDonagh Source South West GLH was added to ATP6V0A2. Mode of inheritance for gene ATP6V0A2 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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