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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