| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | LTBP3 | Arina Puzriakova Tag Q1_22_rating was removed from gene: LTBP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | LTBP3 | Arina Puzriakova reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.21 | LTBP3 | Eleanor Williams Added comment: Comment on mode of inheritance: Note monoallelic variants in this gene have also been reported in association with Geleophysic dysplasia 3 but a cardiac phenotype is not noted in these cases to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.21 | LTBP3 | Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Tag Q1_22_rating tag was added to gene: LTBP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Classified gene: LTBP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with a recommendation for GREEN rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Gene: ltbp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.19 | LTBP3 | Eleanor Williams Phenotypes for gene: LTBP3 were changed from Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability to Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability; Dental anomalies and short stature, OMIM:601216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 | Eleanor Williams reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 | Tracy Lester edited their review of gene: LTBP3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 |
Tracy Lester gene: LTBP3 was added gene: LTBP3 was added to Thoracic aortic aneurysm and dissection. Sources: NHS GMS Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 25899461; 29625025 Phenotypes for gene: LTBP3 were set to Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability Penetrance for gene: LTBP3 were set to unknown Added comment: AR Short stature with dental anomalies (MIM601216) is an autosomal recessive disorder that can present with variable valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms. Pathogenic variant was alsmost missed as it was not tiered - not green on this panel and gene was on skeletal panel with only monoallelic mode of inheritance. Sources: NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||