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| Aortopathy_Connective Tissue Disorders v1.24 | MFAP5 | Zornitza Stark Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.23 | MFAP5 | Zornitza Stark Publications for gene: MFAP5 were set to 25434006; 30763214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.22 | MFAP5 | Michelle Torres reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33807627, 33514025, 29524629; Phenotypes: Aortic aneurysm, familial thoracic 9 (MIM#616166); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.124 | MFAP5 | Zornitza Stark Marked gene: MFAP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.124 | MFAP5 | Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.124 | MFAP5 | Zornitza Stark Classified gene: MFAP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.124 | MFAP5 | Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.123 | MFAP5 |
Paul De Fazio gene: MFAP5 was added gene: MFAP5 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MFAP5 were set to 25434006; 30763214 Phenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic MIM# 616166 Review for gene: MFAP5 was set to AMBER gene: MFAP5 was marked as current diagnostic Added comment: 2 families described with thoracic aortic aneurysms and dissections, one with a nonsense variant and one with a missense (PMID:2544006). A recent review doesn't mention any other cases (PMID:30763214). Sources: Literature |
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