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Thoracic aortic aneurysm or dissection v1.100 | ABCC6 | Ellen McDonagh Phenotypes for gene: ABCC6 were changed from to #614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.99 | ABCC6 | Ellen McDonagh Publications for gene: ABCC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.90 | ABCC6 | Rebecca Whittington commented on gene: ABCC6: 264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.89 | ABCC6 | Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.88 | ABCC6 | Rebecca Whittington reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.87 | ABCC6 |
Ellen McDonagh Source South West GLH was added to ABCC6. Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |