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| Aortopathy_Connective Tissue Disorders v1.4 | COL5A2 | Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.3 | COL5A2 | Zornitza Stark edited their review of gene: COL5A2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.3 | COL5A2 | Zornitza Stark reviewed gene: COL5A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM#130010; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | COL5A2 | Zornitza Stark Marked gene: COL5A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | COL5A2 | Zornitza Stark Gene: col5a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | COL5A2 | Zornitza Stark Mode of inheritance for gene: COL5A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.95 | COL5A2 | Zornitza Stark Classified gene: COL5A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.95 | COL5A2 | Zornitza Stark Gene: col5a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.30 | COL5A2 |
Paul De Fazio changed review comment from: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). Sources: Literature; to: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Variants in this gene make up ~14% of cases. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). Sources: Literature |
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| Aortopathy_Connective Tissue Disorders v0.30 | COL5A2 |
Paul De Fazio gene: COL5A2 was added gene: COL5A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL5A2 were set to 20847697; 22696272 Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 2, MIM#120190 Penetrance for gene: COL5A2 were set to unknown Review for gene: COL5A2 was set to GREEN gene: COL5A2 was marked as current diagnostic Added comment: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). Sources: Literature |
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