Thoracic aortic aneurysm or dissection (GMS)
Gene: SECISBP2
Comment on list classification: There is sufficient evidence available (four unrelated cases and animal models) for the promotion of this gene to green rating in the next GMS review.Created: 10 Apr 2024, 5:56 p.m. | Last Modified: 10 Apr 2024, 5:56 p.m.
Panel Version: 3.11
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.Created: 10 Apr 2024, 5:51 p.m. | Last Modified: 10 Apr 2024, 5:51 p.m.
Panel Version: 3.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thyroid hormone metabolism, abnormal, 1, OMIM:609698
Publications
Biallelic defects in this gene cause a multi system disorder with deficiency of most human selenoproteins. Phenotypes listed here are associated with a biochemical signature of elevated circulating T4 (thyroxine) and low plasma selenium.
Since some pathogenic variants can be in non-coding regions and cryptic, we suggest a high index of suspicion even in cases of aortic aneurysm with an apparently monoallelic SECISBP2 defect. In such cases, we advocate measuring circulating T4 and selenium; if these biomarker levels are abnormal a cryptic mutation on the other allele should be sought.
Sources: LiteratureCreated: 28 Mar 2024, 6:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation; sensorineural hearing loss; muscular dystrophy; thoracic aortic aneurysm; raised circulating thyroxine and low plasma selenium
Publications
Tag Q2_24_NHS_review tag was added to gene: SECISBP2.
Gene: secisbp2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SECISBP2 were changed from Growth retardation; sensorineural hearing loss; muscular dystrophy; thoracic aortic aneurysm; raised circulating thyroxine and low plasma selenium to Thyroid hormone metabolism, abnormal, 1, OMIM:609698; thoracic aortic aneurysm
Publications for gene: SECISBP2 were set to PMID 38042913; PMID 21084748
Tag Q2_24_promote_green tag was added to gene: SECISBP2.
gene: SECISBP2 was added gene: SECISBP2 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Literature Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to PMID 38042913; PMID 21084748 Phenotypes for gene: SECISBP2 were set to Growth retardation; sensorineural hearing loss; muscular dystrophy; thoracic aortic aneurysm; raised circulating thyroxine and low plasma selenium Penetrance for gene: SECISBP2 were set to Complete Review for gene: SECISBP2 was set to GREEN