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Thoracic aortic aneurysm or dissection (GMS) v0.35 | ACVR1 | Ivone Leong reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.32 | ACVR1 | James Eden reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 22536403; Phenotypes: Fibrodysplasia ossificans progressiva 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.0 | ACVR1 |
Ellen McDonagh gene: ACVR1 was added gene: ACVR1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |