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Ehlers Danlos syndrome with a likely monogenic cause v4.9 LOX Ida Ertmanska Publications for gene: LOX were set to 26838787; 27432961
Ehlers Danlos syndrome with a likely monogenic cause v4.8 LOX Ida Ertmanska Tag Q2_26_MOI tag was added to gene: LOX.
Ehlers Danlos syndrome with a likely monogenic cause v4.8 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.
Ehlers Danlos syndrome with a likely monogenic cause v4.8 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
Ehlers Danlos syndrome with a likely monogenic cause v2.35 LOX Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Ehlers Danlos syndrome with a likely monogenic cause v1.43 LOX Duncan Baker reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 LOX Eleanor Williams reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 LOX Eleanor Williams Source NHS GMS was added to LOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause LOX Angela Brady reviewed LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Neeti Ghali reviewed LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty classified LOX as green
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty commented on LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty edited their review of LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty added LOX to panel
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty reviewed LOX