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| Genomic screening in children: BabyScreen+ v0.46 | LOX |
Zornitza Stark Tag cardiac tag was added to gene: LOX. Tag treatable tag was added to gene: LOX. |
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| Genomic screening in children: BabyScreen+ v0.42 | LOX | Zornitza Stark Marked gene: LOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.42 | LOX | Zornitza Stark Gene: lox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.42 | LOX | Zornitza Stark Classified gene: LOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.42 | LOX | Zornitza Stark Gene: lox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.41 | LOX |
Zornitza Stark gene: LOX was added gene: LOX was added to Genomic screening in children: BabyScreen+. Sources: Expert Review 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, MIM#617168 Review for gene: LOX was set to GREEN Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen. FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta). Variable age of clinical presentation. Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2. Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol. Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection. Sources: Expert Review |
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