Thoracic aortic aneurysm or dissection (GMS)
Gene: FBN1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
On CGGL Royal Brompton panel. Multiple pathogenic variants reported. Cardinal gene for Marfan syndrome.Created: 18 Sep 2019, 2:15 p.m. | Last Modified: 18 Sep 2019, 2:15 p.m.
Panel Version: 0.30
Phenotypes
Marfan syndrome
Variants in this GENE are reported as part of current diagnostic practice
Well characterised gene (Marfan syndrome / aortopathy); present on Wessex aortopathy and TAAD panels.Created: 29 Aug 2019, 2:31 p.m. | Last Modified: 29 Aug 2019, 2:31 p.m.
Panel Version: 0.5
Phenotypes
Marfan syndrome; Ectopia lentis
Variants in this GENE are reported as part of current diagnostic practice
154700 Marfan syndrome; well characterised geneCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene currently tested on Manchester cardiac gene panel. 2721 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with TAAD (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 24.Created: 19 Feb 2016, 10:48 a.m.
Publications
Mutations in exons 24-32 are associated with a more severe phenotype, often manifesting in the neonatal period.
Mutations in exons 41 and 42 also cause Acromicric dysplasia and Geleophysic dysplasia.Created: 20 Jan 2016, 4:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome; tall; Arachnodactyly; scoliosis; Aortic root dilatation; Aortic dissection; Pectus excavatum; hypermobile joints; pes planus; ectopia lentis
Publications for gene: FBN1 were set to
gene: FBN1 was added gene: FBN1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Weill-Marchesani syndrome 2, dominant, (608328); Marfan syndrome (154700); Ectopia lentis, familial (129600); Marfan lipodystrophy syndrome (616914); MASS syndrome (604308); Stiff skin syndrome (184900); Geleophysic dysplasia 2 (614185); Marfan Syndrome; Aortic aneurysm, ascending, and dissection; ongenital contracturalarachnodactyly; Acromicric dysplasia (102370)