| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aortopathy_Connective Tissue Disorders v0.85 | TGFB3 | Zornitza Stark Marked gene: TGFB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.85 | TGFB3 | Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.85 | TGFB3 | Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MI# 615582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.84 | TGFB3 | Zornitza Stark Publications for gene: TGFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.83 | TGFB3 | Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.29 | TGFB3 | Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.29 | TGFB3 | Paul De Fazio changed review comment from: "Uncertain" by ClinGen. 43 patients from 11 families reported in PMID 25835445 but this seemed insufficient for the ClinGen working group.; to: "Uncertain" by ClinGen. 43 patients from 11 families with syndromic presentations of aortic aneurysms reported in PMID 25835445 but this seemed insufficient for the ClinGen working group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.29 | TGFB3 | Paul De Fazio changed review comment from: "Uncertain" by ClinGen. Quite a few individuals in PMID 25835445 but this seemed insufficient for the ClinGen working group.; to: "Uncertain" by ClinGen. 43 patients from 11 families reported in PMID 25835445 but this seemed insufficient for the ClinGen working group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.29 | TGFB3 | Paul De Fazio changed review comment from: "Uncertain" by ClinGen. 3 unrelated individuals in PMID 25835445 but this was insufficient for the ClinGen working group.; to: "Uncertain" by ClinGen. Quite a few individuals in PMID 25835445 but this seemed insufficient for the ClinGen working group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.26 | TGFB3 | Paul De Fazio changed review comment from: "Uncertain" by ClinGen. 3 unrelated individuals in PMID 25835445 but insufficient for the ClinGen working group.; to: "Uncertain" by ClinGen. 3 unrelated individuals in PMID 25835445 but this was insufficient for the ClinGen working group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.26 | TGFB3 | Paul De Fazio reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25835445; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, Loeys-Dietz syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.0 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||