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Thoracic aortic aneurysm or dissection (GMS) v5.3 LOX Ida Ertmanska Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168; aortic aneurysm to Aortic aneurysm, familial thoracic 10, OMIM:617168
Thoracic aortic aneurysm or dissection (GMS) v5.2 LOX Ida Ertmanska Publications for gene: LOX were set to 26838787; 27432961
Thoracic aortic aneurysm or dissection (GMS) v5.1 LOX Ida Ertmanska Tag Q2_26_MOI tag was added to gene: LOX.
Thoracic aortic aneurysm or dissection (GMS) v5.1 LOX Ida Ertmanska commented on gene: LOX: Comment on mode of inheritance: There are 2 unrelated probands reported with biallelic missense LOX variants and a shared phenotype of cutis laxa, arterial dilatation, thickened heart, bone fragility, and respiratory failure. Mouse models are supportive, with knockout mouse showing abnormal collagen fibers in skin, impaired airway development, aneurysms and aortic wall dysplasia, with death occuring shortly after birth. Hence, the MOI should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Thoracic aortic aneurysm or dissection (GMS) v5.1 LOX Ida Ertmanska reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16192629, 27432961, 33866545; Phenotypes: Aortic aneurysm, familial thoracic 10, OMIM:617168; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.36 LOX Ivone Leong Publications for gene: LOX were set to
Thoracic aortic aneurysm or dissection (GMS) v0.35 LOX Ivone Leong reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.34 LOX Ivone Leong Source Expert Review Green was added to LOX.
Source NHS GMS was added to LOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.30 LOX James Eden reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: Aortic aneurysm, familial thoracic 10 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.30 LOX Matthew Edwards reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: OMIM: 617168 Aortic aneurysm, familial thoracic 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.0 LOX Ellen McDonagh gene: LOX was added
gene: LOX was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, 617168; aortic aneurysm