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| Dilated Cardiomyopathy v2.7 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.7 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.7 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection to MONDO:0007947 Marfan Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.6 | FBN1 | Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.6 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.2 | FBN1 |
Natasha Henden gene: FBN1 was added gene: FBN1 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to PMID: 39900832; 24531548 Phenotypes for gene: FBN1 were set to MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection Review for gene: FBN1 was set to AMBER Added comment: Dilated cardiomyopathy (DCM) is increasingly recognised as a primary manifestation of Marfan Syndrome (MFS) and/or FBN1 haploinsufficiency. Intrinsic cardiomyopathy characterised by left ventricular dilation and dysfunction has been observed in 13-21.7% and 16-39.8% of paediatric and adult MFS patients, respectively; with approximately 23% of these patients presenting without concomitant valvular disease, and at least 3% of adult patients (n=3 of 97 adult MFS patients from the GenTAC registry) presenting with ventricular only and not aortic dilation (PMID: 39900832, PMID: 24531548). Additionally, fibrillin-1 haploinsufficiency murine models manifest primary DCM due to abnormal mechano-signalling in cardiomyocytes. Observation of increased angiotensin II receptor signalling and reduced focal adhesion kinase activity indicates chronic mechanical stress in cardiomyocytes drives DCM presentation and progression, in otherwise phenotypically normal fibrillin-1-deficient mice (PMID: 24531548). Sources: Literature |
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