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| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: SECISBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Classified gene: SECISBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Gene: secisbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.10 | SECISBP2 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.9 | SECISBP2 | Achchuthan Shanmugasundram Publications for gene: SECISBP2 were set to PMID 38042913; PMID 21084748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SECISBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 | Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38042913; Phenotypes: Thyroid hormone metabolism, abnormal, 1, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 |
krishna chatterjee 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 Added comment: 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: Literature |
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