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| Aortopathy_Connective Tissue Disorders v0.82 | TGFB2 | Zornitza Stark Marked gene: TGFB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.82 | TGFB2 | Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.82 | TGFB2 | Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.81 | TGFB2 | Zornitza Stark Publications for gene: TGFB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.80 | TGFB2 | Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.26 | TGFB2 |
Paul De Fazio changed review comment from: "Definitive" by ClinGen. ClinGen cite PMID 22772371 which describes 4 families with variants in this gene.; to: "Definitive" by ClinGen Aortopathy Working Group. The ClinGen Working Group cite PMID 22772371 which describes 4 families with variants in this gene. |
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| Aortopathy_Connective Tissue Disorders v0.26 | TGFB2 | Paul De Fazio reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 22772371; Phenotypes: Loeys-Dietz syndrome 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.0 | TGFB2 |
Zornitza Stark gene: TGFB2 was added gene: TGFB2 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB2 was set to Unknown |
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