| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aortopathy_Connective Tissue Disorders v1.73 | LTBP3 | Zornitza Stark Classified gene: LTBP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.73 | LTBP3 | Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.72 | LTBP3 |
Krithika Murali changed review comment from: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies. Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.; to: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies. Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.72 | LTBP3 | Krithika Murali reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34906192; Phenotypes: Dental anomalies and short stature - MIM#601216, thoracic aortic aneurysms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.54 | LTBP3 | Zornitza Stark Marked gene: LTBP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.54 | LTBP3 | Zornitza Stark Gene: ltbp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.50 | LTBP3 | Bryony Thompson Classified gene: LTBP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.50 | LTBP3 | Bryony Thompson Gene: ltbp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.49 | LTBP3 |
Bryony Thompson gene: LTBP3 was added gene: LTBP3 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: LTBP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 29625025; 34150014 Phenotypes for gene: LTBP3 were set to Thoracic aortic aneurysms and dissections Review for gene: LTBP3 was set to AMBER Added comment: 2 families with biallelic variants with thoracic aortic aneurysms and dissections and other arterial aneurysms, along with skeletal and dental defects. TAA hasn't been reported in other dental anomalies and short stature cases with biallelic LTBP3 variants. Individuals with heterozygous mutations in LTBP3 may also be at increased risk for later-onset thoracic aortic disease, 9/338 isolated TAD individuals had rare heterozygous variants. Null mouse model had thoracic aortic aneurysms Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||