| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thoracic aortic aneurysm or dissection v1.92 | FBN1 | Alison Callaway reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | FBN1 | Rebecca Whittington commented on gene: FBN1: 154700 Marfan syndrome; well characterised gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | FBN1 | Rebecca Whittington reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | FBN1 |
Ellen McDonagh Source South West GLH was added to FBN1. Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection v1.86 | FBN1 | Ellen McDonagh edited their review of gene: FBN1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.85 | FBN1 | Ellen McDonagh Source London South GLH was added to FBN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | ADAMTSL4 |
Simon Thomas gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Thoracic aortic aneurysm or dissection. Sources: UKGTN Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: ADAMTSL4 was set to GREEN Added comment: ADAMTSL4 is not currently available as a green gene on any panel. It is red in both the Craniosynostosis and Cataracts panels. In OMIM it is associated with Ectopia lentis (isolated and et pupillae). There may be an argument for including this on the panel as a differential diagnosis for Marfan syndrome (although there are no cardiac features), particularly as the test for Marfan syndrome has been amalgamted with TAAD in the Test directory. The gene is included in the Wessex UKGTN TAAD panel and to date we have identified six homozygous cases of c.767_786del and one compound heterozygote. Four were referred for Marfan syndrome and specifically requested FBN1 testing. Sources: UKGTN |
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| Thoracic aortic aneurysm or dissection v1.84 | FBN1 | James Eden reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20082464; Phenotypes: Acromicric dysplasia (102370), Ectopia lentis, familial (129600), Geleophysic dysplasia 2 (614185), Marfan lipodystrophy syndrome (616914), Marfan syndrome (154700), MASS syndrome (604308), Stiff skin syndrome (184900), Weill-Marchesani syndrome 2, dominant, (608328); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.83 | FBN1 |
Ellen McDonagh Source North West GLH was added to FBN1. Added phenotypes Ectopia lentis, familial (129600); Marfan syndrome (154700); Marfan lipodystrophy syndrome (616914); Weill-Marchesani syndrome 2, dominant, (608328); Acromicric dysplasia (102370); Stiff skin syndrome (184900); MASS syndrome (604308); Geleophysic dysplasia 2 (614185) for gene: FBN1 Publications for gene FBN1 were changed from to 20082464 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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