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Thoracic aortic aneurysm or dissection (GMS) v0.35 | CHST14 | Ivone Leong reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.32 | CHST14 | James Eden reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.0 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal |