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| Thoracic aortic aneurysm or dissection v1.90 | SKI | Rebecca Whittington commented on gene: SKI: 182212 Shprintzen-Goldberg syndrome - syndromic CTD including aortic root dilation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | ATP6V0A2 | Rebecca Whittington commented on gene: ATP6V0A2: 219200 Cutis laxa; 278250 wrinkly skin syndrome; no cardiac phenotype but some overlapping skin/joint laxity features with MFS/EDS type syndromes. Over 40 variants associated with cutis laxa on HGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | ALDH18A1 | Rebecca Whittington commented on gene: ALDH18A1: AD (606603)/AR (219150) cutis laxa; rarely associated with aortic insufficiency or thin aortic valve. Dislocations; joint laxity; spinal curvature; thin translucent lax skin are all features which overlap some of the MFS/EDS spectrum of syndromes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | ADAMTS2 | Rebecca Whittington commented on gene: ADAMTS2: 225410 dermatospraxis type Ehlers-Danlos syndrome. OMIM phenotype is skin fragility and bruising without any cardiovascular phenotype. No aortopathy associations on OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | SKI | Rebecca Whittington commented on gene: SKI: Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | FBLN5 | Rebecca Whittington commented on gene: FBLN5: Callewaert et al 2013 Hum Mutat 34:111 PMID:22829427 describe one missense and one nonsense variant c.649T>C p.Cys217Arg; c.1171G>T p.Glu391X (both homozygous in consanguineous families) but do not report segregation or functional analysis for either variant, but both had significant family history; p.Cys217Arg has previously been reported elsewhere. Hu et al 2006 Hum Mol Genet 15:3379 PMID:17035250 carried out functional analysis on two missense variants including Cys217Arg and have shown fibulin-5 is absent in skin from a homozygous p.ser227Pro patient with resulting disorganisation of elastic fibres. Loeys et al 2002 11:2113 PMID:12189163 characterised the Ser224Pro variant in 4 homozygous affected members of a large consangineous family - segregation data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | SKI | Rebecca Whittington reviewed gene: SKI: 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 | SKI | Ellen McDonagh Source South West GLH was added to SKI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.86 | SKI | Ellen McDonagh edited their review of gene: SKI: 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 | SKI | Ellen McDonagh Source London South GLH was added to SKI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | SKI | James Eden reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023332; Phenotypes: Shprintzen-Goldberg syndrome (182212); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SKI |
Ellen McDonagh Source North West GLH was added to SKI. Added phenotypes Shprintzen-Goldberg syndrome (182212) for gene: SKI Publications for gene SKI were changed from 23023332; 23103230; 24736733; 27146836 to 23023332 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| 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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