Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aortopathy_Connective Tissue Disorders v1.94 | SECISBP2 | Zornitza Stark Marked gene: SECISBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v1.94 | SECISBP2 | Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v1.94 | SECISBP2 | Zornitza Stark Classified gene: SECISBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v1.94 | SECISBP2 | Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v1.93 | SECISBP2 |
Zornitza Stark gene: SECISBP2 was added gene: SECISBP2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 38042913 Phenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1 MIM#609698; Selenoprotein deficiency Review for gene: SECISBP2 was set to GREEN Added comment: PMID:38042913 reported the identification of four unrelated individuals with biallelic SECISBP2 variants and showed early-onset, progressive, aneurysmal dilatation of the ascending aorta due to cystic medial necrosis. In addition, zebrafish and mice with global or vascular smooth muscle cell (VSMC)-targeted disruption of Secisbp2 respectively showed similar aortopathy. Additional features present in probands, condition is more appropriately termed 'selenoprotein deficiency' rather than focusing on the thyroid disease. Sources: Literature |