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| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL4A1 | Ivone Leong reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL4A1 | James Eden reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20558831; Phenotypes: ?Retinal arteries, tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Brain small vessel disease with or without ocular anomalies 175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL4A1 |
Ellen McDonagh gene: COL4A1 was added gene: COL4A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps |
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