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Thoracic aortic aneurysm or dissection (GMS) v0.35 | ABCC6 | Ivone Leong reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.32 | ABCC6 | James Eden reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: 28102862; Phenotypes: Pseudoxanthoma elasticum 264800, Pseudoxanthoma elasticum, forme fruste 177850, Arterial calcification, generalized, of infancy, 2 614473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.0 | ABCC6 |
Ellen McDonagh gene: ABCC6 was added gene: ABCC6 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |