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| BabyScreen+ newborn screening v0.1832 | TGFB2 | Zornitza Stark Tag for review was removed from gene: TGFB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1741 | TGFB2 | Zornitza Stark Marked gene: TGFB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1741 | TGFB2 | Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1741 | TGFB2 | Zornitza Stark Classified gene: TGFB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1741 | TGFB2 | Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1740 | TGFB2 |
Zornitza Stark Tag for review tag was added to gene: TGFB2. Tag cardiac tag was added to gene: TGFB2. Tag treatable tag was added to gene: TGFB2. |
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| BabyScreen+ newborn screening v0.1740 | TGFB2 |
Zornitza Stark gene: TGFB2 was added gene: TGFB2 was added to gNBS. Sources: ClinGen Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816 Review for gene: TGFB2 was set to GREEN Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen. Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy. Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm. Beta-blockers or other medications can be used to reduce hemodynamic stress. Consider Medicalert bracelet. Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria. Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck. Sources: ClinGen |
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