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Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty Tag watchlist was removed from gene: SMAD2.
Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty commented on gene: SMAD2
Thoracic aortic aneurysm or dissection v1.112 ADAMTSL4 Ivone Leong Phenotypes for gene: ADAMTSL4 were changed from to Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Classified gene: ADAMTSL4 as Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review from Ellen Thomas (Genomics England Curator).
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Gene: adamtsl4 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection v1.110 FLCN Ivone Leong commented on gene: FLCN
Thoracic aortic aneurysm or dissection v1.110 COL1A2 Ivone Leong commented on gene: COL1A2: After consulting with the Genomics England Clinical Team, it was decided that this gene should remain Green on this panel.
Thoracic aortic aneurysm or dissection v1.110 COL1A1 Ivone Leong commented on gene: COL1A1
Thoracic aortic aneurysm or dissection v1.110 ADAMTSL4 Ellen Thomas reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectopia lentis et pupillae, Ectopia lentis, isolated, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Classified gene: CBS as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviews.
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Gene: cbs has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection v1.109 COL5A2 Ivone Leong Publications for gene: COL5A2 were set to 26188975; 29543232
Thoracic aortic aneurysm or dissection v1.108 COL5A2 Ivone Leong Publications for gene: COL5A2 were set to 26188975
Thoracic aortic aneurysm or dissection v1.107 COL5A1 Ivone Leong Publications for gene: COL5A1 were set to 26188975; 10946364
Thoracic aortic aneurysm or dissection v1.106 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to 25758994
Thoracic aortic aneurysm or dissection v1.105 COL1A2 Ivone Leong Publications for gene: COL1A2 were set to
Thoracic aortic aneurysm or dissection v1.104 BGN Ivone Leong Publications for gene: BGN were set to 27632686
Thoracic aortic aneurysm or dissection v1.103 ADAMTS2 Ellen McDonagh Phenotypes for gene: ADAMTS2 were changed from to 225410 Ehlers-Danlos syndrome, type VIIC
Thoracic aortic aneurysm or dissection v1.102 ADAMTS2 Ellen McDonagh Publications for gene: ADAMTS2 were set to
Thoracic aortic aneurysm or dissection v1.101 ADAMTS2 Ellen McDonagh Mode of inheritance for gene: ADAMTS2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.100 ABCC6 Ellen McDonagh Phenotypes for gene: ABCC6 were changed from to #614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste
Thoracic aortic aneurysm or dissection v1.99 ABCC6 Ellen McDonagh Publications for gene: ABCC6 were set to
Thoracic aortic aneurysm or dissection v1.98 SLC2A10 Ellen McDonagh edited their review of gene: SLC2A10: Added comment: Biallelic mode of inheritance is correct.; Changed publications: 22001912, doi:10.​1007/​s12265-016-9673-5; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.98 MYH11 Ellen McDonagh Publications for gene: MYH11 were set to 27081537
Thoracic aortic aneurysm or dissection v1.97 FLNA Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Thoracic aortic aneurysm or dissection v1.97 FLNA Ivone Leong Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Thoracic aortic aneurysm or dissection v1.96 COL3A1 Ivone Leong commented on gene: COL3A1
Thoracic aortic aneurysm or dissection v1.96 COL1A2 Ivone Leong commented on gene: COL1A2
Thoracic aortic aneurysm or dissection v1.96 BGN Ivone Leong commented on gene: BGN
Thoracic aortic aneurysm or dissection v1.96 COL3A1 Ivone Leong Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.95 COL1A2 Ivone Leong Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.94 BGN Ivone Leong Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Thoracic aortic aneurysm or dissection v1.93 COL5A2 James Eden reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29543232; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.93 COL5A1 James Eden reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28868310, 25845371, 239975631, 2180144, 29543232; Phenotypes: Ehlers-Danlos syndrome, classic type, 1 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.93 COL1A2 James Eden changed review comment from: Gene not currently tested on Manchester cardiac gene panel. 566 variants listed on HGMD (accessed 24/09/2019). Very little literature showing aortic involvment.; to: Gene not currently tested on Manchester cardiac gene panel. 566 variants listed on HGMD (accessed 24/09/2019). Very little literature showing aortic involvement.
Thoracic aortic aneurysm or dissection v1.93 COL1A1 James Eden reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: 14630726; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.93 COL1A1 James Eden Deleted their review
Thoracic aortic aneurysm or dissection v1.93 COL1A2 James Eden reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2 617821, Ehlers-Danlos syndrome, cardiac valvular type 225320, Osteogenesis imperfecta, types II, III, IV 166210 259420 166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.93 COL1A1 James Eden reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14630726; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.93 BGN James Eden reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686, 17502576; Phenotypes: Meester-Loeys syndrome, 300989, Spondyloepimetaphyseal dysplasia, X-linked, 300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Thoracic aortic aneurysm or dissection v1.93 ABL1 James Eden reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome, 617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.92 CBS Alison Callaway reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFB3 Alison Callaway reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection v1.92 SMAD4 Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 24424121, 25931195; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection v1.92 SLC2A10 Alison Callaway reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 FBN2 Alison Callaway reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL5A2 Alison Callaway reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL5A1 Alison Callaway reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL1A2 Alison Callaway reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL1A1 Alison Callaway reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFB2 Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFBR2 Alison Callaway reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFBR1 Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 MYH11 Alison Callaway reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 ACTA2 Alison Callaway Deleted their review
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 v1.92 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection v1.92 COL3A1 Alison Callaway reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 Ellen McDonagh Panel types changed to Rare Disease 100K
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Classified gene: ADAMTSL4 as Red List (low evidence)
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Added comment: Comment on list classification: This gene has been added to this panel initially as Red, and is awaiting clinical judgement as to whether this should be included diagnostically on this panel.
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Gene: adamtsl4 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection v1.90 FOXE3 Rebecca Whittington commented on gene: FOXE3: 617349 susceptibility to aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 CBS Rebecca Whittington commented on gene: CBS: 236200 Homocystinuria - clinical synopsis for homocystinuria on OMIM includes tall stature, ectopia lentis, myopia, mitral valve prolapse, pectus, kyphoscoliosis and arachnodactyly - phenotypic overlap with Marfan/EDS/LDS syndromic features. Gene is green in EDS panel.
Thoracic aortic aneurysm or dissection v1.90 TGFBR2 Rebecca Whittington commented on gene: TGFBR2: 610168 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFBR1 Rebecca Whittington commented on gene: TGFBR1: 609192 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB3 Rebecca Whittington commented on gene: TGFB3: 615582 Loeys-Dietz syndrom; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB2 Rebecca Whittington commented on gene: TGFB2: 614816 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD4 Rebecca Whittington commented on gene: SMAD4: 139210 Myhre syndrome - syndromic with cardiac abnormalities including aortic stenosis/coarctation. HGMD - 6 variants for Myher syndrome but phenotype varies for patients with same variant.
Thoracic aortic aneurysm or dissection v1.90 SMAD3 Rebecca Whittington commented on gene: SMAD3: 613795 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD2 Rebecca Whittington commented on gene: SMAD2: No OMIM association; HGMD Loeys-Dietz syndrome
Thoracic aortic aneurysm or dissection v1.90 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: 208050 Arterial tortuosity syndrome - autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries
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 PRKG1 Rebecca Whittington commented on gene: PRKG1: 615436 FTAAD non-syndromic
Thoracic aortic aneurysm or dissection v1.90 PLOD1 Rebecca Whittington commented on gene: PLOD1: 225400 Kyphoscoliotic Ehlers-Danlos syndrome
Thoracic aortic aneurysm or dissection v1.90 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: 616028 Adams-Oliver syndrome - vascular abnormalities with congenital heart defects and limb abnormalities; 109730 Aortic valve disease - BAV
Thoracic aortic aneurysm or dissection v1.90 MYLK Rebecca Whittington commented on gene: MYLK: 613780 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 MYH11 Rebecca Whittington commented on gene: MYH11: 132900 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 LOX Rebecca Whittington commented on gene: LOX: 617168 Familial thoracic aortic aneursym
Thoracic aortic aneurysm or dissection v1.90 FLNA Rebecca Whittington commented on gene: FLNA: 314400 Cardiac valvular dysplasia, X-linked; 300048 Congenital short bowel syndrome; 309350 Melnick-Needles syndrome all have aortic involvement
Thoracic aortic aneurysm or dissection v1.90 FBN2 Rebecca Whittington commented on gene: FBN2: 121050 Contractural arachnodactyly - CTD including aortic root dilatation, patent ductus arteriosus, BAV, VSD, ASD, mitral valve prolapse and mitral regurgitation
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 v1.90 ELN Rebecca Whittington commented on gene: ELN: 123700 Cutis Laxa; 185500 supravalvar aortic stenosis; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: 614437 Cutis Laxa - CTD phenotype including aortic/pulmonory artery anuerysms and arterial/venous tortuosity, arterial stenosis and vascular fragility. Missense, splicing and frameshift variants
Thoracic aortic aneurysm or dissection v1.90 COL5A2 Rebecca Whittington commented on gene: COL5A2: 130010 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL5A1 Rebecca Whittington commented on gene: COL5A1: 130000 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL3A1 Rebecca Whittington commented on gene: COL3A1: 130050 Vascular Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 ACTA2 Rebecca Whittington commented on gene: ACTA2: 611788 FTAAD, nonsyndromic, age of onset 3-79. Well characterised FTAAD gene.
Thoracic aortic aneurysm or dissection v1.90 ZNF469 Rebecca Whittington commented on gene: ZNF469: 229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapse
Thoracic aortic aneurysm or dissection v1.90 TNXB Rebecca Whittington commented on gene: TNXB: 606408 Ehlers-Danlos syndrome, classic-like, 1 -syndromic CTD with quadricuspid aortic valve and MVP.
Thoracic aortic aneurysm or dissection v1.90 SLC39A13 Rebecca Whittington commented on gene: SLC39A13: 612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3 - no cardiac phenotype on OMIM; no relevant phenotypes on HGMD and only 3 variants described in association with EDS
Thoracic aortic aneurysm or dissection v1.90 MFAP5 Rebecca Whittington commented on gene: MFAP5: 616166 Aortic aneurysm, familial thoracic 9 - syndromic - also pectus and arachnodactyly
Thoracic aortic aneurysm or dissection v1.90 LTBP2 Rebecca Whittington commented on gene: LTBP2: 614819 Weill-Marchesani syndrome 3 - short stature, myopia and aortic/pulmonary valve stenosis; Most HGMD variants associate with glaucoma
Thoracic aortic aneurysm or dissection v1.90 KCNN1 Rebecca Whittington commented on gene: KCNN1: No disease association on OMIM and HGMD has no entries for this gene; nothing relevant on PubMed search
Thoracic aortic aneurysm or dissection v1.90 HNRNPK Rebecca Whittington commented on gene: HNRNPK: 615580 Au-Kline syndrome - syndromic CTD including aortic root dilation and cardiac malformations.
Thoracic aortic aneurysm or dissection v1.90 FKBP14 Rebecca Whittington commented on gene: FKBP14: 614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - rare aortic rupture and occasional patent ductus arteriosus, with other cardiac involvement being tricuspid and mitral valve insufficiency.
Thoracic aortic aneurysm or dissection v1.90 FBLN5 Rebecca Whittington commented on gene: FBLN5: 614434/219100 AD/AR Cutis Laxa - cardiac phenotype includes ascending aortic aneurysm, vascular tortuosity and SVAS. Most HGMD variants (10) are associated with age-related macular degeneration, but 7 variants reported in association with cutis laxa
Thoracic aortic aneurysm or dissection v1.90 COL9A3 Rebecca Whittington commented on gene: COL9A3: 600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy; no cardiac involment on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A2 Rebecca Whittington commented on gene: COL9A2: 614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A1 Rebecca Whittington commented on gene: COL9A1: 614135 Multiple epiphyseal dysplasia; 614134 Stickler syndrome, type IV; no mention of cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL4A1 Rebecca Whittington commented on gene: COL4A1: 611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps - aneurysms are of carotid and cerebral arteries; 180000 tortuosity of retinal arteries; HGMD also checked; phenotype is small vessel brain/retinal disease
Thoracic aortic aneurysm or dissection v1.90 COL2A1 Rebecca Whittington commented on gene: COL2A1: A number of syndromic and non-syndromic skeletal dysplasia/CTD described on OMIM. Only one with any cardiac involvement is 108300 Stickler syndrome (mitral valve prolapse)
Thoracic aortic aneurysm or dissection v1.90 COL11A2 Rebecca Whittington commented on gene: COL11A2: 601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL11A1 Rebecca Whittington commented on gene: COL11A1: 154780 AD Marshall syndrome; 604841 AD Stickler syndrome, type II; 228520 AR Fibrochondrogenesis 1. None of these have aortic involvement (Patent foramen ovale in Fibrochondrogeneis 1); no relevant phenotypes listed on HGMD
Thoracic aortic aneurysm or dissection v1.90 CHST14 Rebecca Whittington commented on gene: CHST14: 601776 Ehlers-Danlos syndrome, musculocontractural type 1 - AR EDS with some cardiac involvement (valve anomolies/ASD)
Thoracic aortic aneurysm or dissection v1.90 B4GALT7 Rebecca Whittington commented on gene: B4GALT7: 130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes.
Thoracic aortic aneurysm or dissection v1.90 ATP7A Rebecca Whittington commented on gene: ATP7A: 309400 XLR Menkes disease; 304150 Occipital horn syndrome - some overlap with connective tissue disorders. Disorders of copper metabolism with neurological impariment.
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 v1.90 ACVR1 Rebecca Whittington commented on gene: ACVR1: 135100 Fibrodysplasia ossificans progressiva - no cardiovascular features on OMIM; no aortopathy associations on HGMD
Thoracic aortic aneurysm or dissection v1.90 ABCC6 Rebecca Whittington commented on gene: ABCC6: 264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 PKD2 Rebecca Whittington commented on gene: PKD2: 613095 Polycystic kidney disease 2
Thoracic aortic aneurysm or dissection v1.90 PKD1 Rebecca Whittington commented on gene: PKD1: 173900 polycystic kidney disease (ADPKD); OMIM mentions cardiac features as valvular disease and intracranial aneurysm. No aortopathy phenotype on HGMD.
Thoracic aortic aneurysm or dissection v1.90 MED12 Rebecca Whittington commented on gene: MED12: 309520 Lujan-Fryns syndrome - connective tissue disorder with ascending aortic aneurysm, ASD/VSD according to OMIM
Thoracic aortic aneurysm or dissection v1.90 FLCN Rebecca Whittington commented on gene: FLCN: 135150 Birt-Hogg-Dube syndrome; 173600 primary spontaneous pneumothorax - neither of these have mention of cardiac phenotype but do mention pneumothorax being typical of Marfan syndrome
Thoracic aortic aneurysm or dissection v1.90 COL1A2 Rebecca Whittington commented on gene: COL1A2: 617821 AD Ehlers-Danlos syndrome, arthrochalasia type - no cardiac involvement; 225320 AR Ehlers-Danlos syndrome, cardiac valvular type - aortic/mitral valve insufficiency
Thoracic aortic aneurysm or dissection v1.90 COL1A1 Rebecca Whittington commented on gene: COL1A1: 130060 AD Ehler's Danlos syndrome arthrochalasia type 1, which does not have a cardiac/aortopathy phenotype associated on OMIM; gene also causative of osteogeneisis imperfecta. Should this be included as it is similar situation to some of the red genes - involved in CTD but without aortopathy.
Thoracic aortic aneurysm or dissection v1.90 BGN Rebecca Whittington commented on gene: BGN: 300989 Meester-Loeys syndrome; phenotype includes aortic aneurysm and dissection as well as rare pulmonory and cerebral artery aneurysm in addition to other syndromic connective tissue phenotypes; female carriers variable phenotype from unaffected to fatal aortic dissection (OMIM).
Thoracic aortic aneurysm or dissection v1.90 ABL1 Rebecca Whittington commented on gene: ABL1: 617602 Congenital heart defects and skeletal malformations syndrome - includes ASD, VSD, aortic root dilation and coarctation of the aorta in addition to other syndromic connective tissue phenotypes; only two variants associated with this phenotype in HGMD, both from same publication
Thoracic aortic aneurysm or dissection v1.89 FOXE3 Rebecca Whittington commented on gene: FOXE3: Kuang et al (J Clin Invest. 2016;126:948 PMID:26854927) describe several variants found in patients with TAAD. All variants associated with TAAD were located in the Forkhead domain. Segregation evidence for two of these variants but incomplete penetrance in that heterozygous male carriers are affected in this study but two heterozygous female carriers are unaffected. 8 family members affected with TAAD - all are male. Suggest FOXE3 mutations lead to reduced numbers of aortic smooth muscle cells and increased smooth muscle cell apoptosis in response to biomechanical stress.
Thoracic aortic aneurysm or dissection v1.89 CBS Rebecca Whittington commented on gene: CBS: Narayanan et al (Int J Physiol Pathophysiol Pharmacol 2013:32 PMID:23525608) - Homocystinuria may present with aortic aneurysm. Decreased expression of Collagens I and IV was observed in CBS+/- mice, analagous to changes seen in TAAD. Gaustadnes et al (HUMAN MUTATION 20:117 2002 PMID:12124992) describes 36 patients with homocystinuria and two variants in CBS. Dislocated lenses and Marfaniod features were reported in many of these patients, with aortic root dilation in one.
Thoracic aortic aneurysm or dissection v1.89 SMAD4 Rebecca Whittington commented on gene: SMAD4: Wain et al 2014 Genet Med 16:588 reviews clinical features of patients with SMAD4 variants and identifies enlarged aortic root in 9% (3 patients) and aortic dissection in one patient. References other publications that refer to a Marfan-like presentation.
Thoracic aortic aneurysm or dissection v1.89 SMAD2 Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date
Thoracic aortic aneurysm or dissection v1.89 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: Callewaert et al 2008 Hum Mutat 29:150 PMID:17935213 describe bialleleic SLC2A10 variants in 16 affected individuals from 12 families; missense, truncating and large deletion; 5 mutations are recurrent. Heterozygous carriers have normal vasculature (abstract only); Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 also identify heterozygous SLC2A10 variants in Marfan cohort patients with arterial aneurysm/dissection but both variants are VUS.
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 PRKG1 Rebecca Whittington commented on gene: PRKG1: Two disease-causing variants reported to HGMD, both published by Overwater et al 2018 Hum Mutat 39:1143 PMID:29907982 one missense variant and one in-frame deletion of exon 3. No segregation for either variant, but the missense variant c.530G>A p.(Arg177Gln) has been reported elsewhere (Guo et al 2013 Am J Hum Genet 93:398 PMID:23910461) with segregation in 18 affected members of 4 families. Other variants are reported as ?DM on HGMD.
Thoracic aortic aneurysm or dissection v1.89 PLOD1 Rebecca Whittington commented on gene: PLOD1: Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Thoracic aortic aneurysm or dissection v1.89 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: Meester et al 2018 Hum Mutat 39:1246 PMID:29924900 Characterisation of variants in Adams-Oliver syndrome missense, nonsense splice and frameshift variants either novel to this publication or also published elsewhere. Multiple variants classified pathogenic/likely pathogenic using ACMG criteria and gnomAD population data using criteria which appear to be stringent. Southgate et al 2015 Circ Cardiovasc Genet 8:572 PMID:25963545 show segregation of NOTCH1 variants in 4 families and de-novo in 3 families and reduction of mRNA levels implying NMD. Both publications list cardiac phenotypes including BAV, co-arctation of the aorta, aortic regurgitation, aortic stenosis and VSD.
Thoracic aortic aneurysm or dissection v1.89 LOX Rebecca Whittington commented on gene: LOX: Guo et al 2016 Circ Res 118:928 PMID:26838787 LOX c.839G>T (p.Ser280Arg) segregates with FTAAD in a large family and other variants also show segregation in other families c.125G>A (p.Trp42*), c.604G>T (p.Gly202*), c.743C>T (p.Thr248Ile), c.800A>C (p.Gln267Pro), and c.1044T>A (p.Ser348Arg). Some (but not all) patients had additional Marfaniod features.
Thoracic aortic aneurysm or dissection v1.89 FLNA Rebecca Whittington commented on gene: FLNA: Chen et al 2018 Am J Med Genet A 176:337 PMID:29334594 examine patients with FLNA for cardiac features and found that 18% had thoracic aortic aneurysm/dilation and 57% had other cardiac abnormalites. This included two patients who died of aortic rupture at aortic diameters smaller than that reccomended for surgery in other aortopathies.
Thoracic aortic aneurysm or dissection v1.89 FBN2 Rebecca Whittington commented on gene: FBN2: Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 5 missense variants identified in Marfan/Marfan-like cohort: 3302A>G Asn1101Ser, 3793G>A Glu1265Lys, 4454A>G Asp1485Gly, 4657C>T Arg1553Cys, 5627G>C Cys1876Ser - all reported as VUS. Callewaert et al 2009 Hum Mutat 30:334 PMID:19006240 review FBN2 variants in contractural arachnodactyly and comment on involvement of aortopathy in phenotype of more recently described cases.
Thoracic aortic aneurysm or dissection v1.89 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: Letard et al 2018 Mol Syndromol 9:190 PMID:30140196 report a severe cutis laxa phenotype in a terminated pregnancy homozygous for an EFEMP2 nonsense variant c.639C>A (p.Cys213*) and review/list previously reported EFEMP2 variants. 0.00041% gnomAD (AR association).
Thoracic aortic aneurysm or dissection v1.89 ACTA2 Rebecca Whittington commented on gene: ACTA2: Recent review: Milewicz et al 2017 Arterioscl Thromb Vasc Biol 37:26 PMID:27879251
Thoracic aortic aneurysm or dissection v1.89 ZNF469 Rebecca Whittington commented on gene: ZNF469: Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any cardiac phenotype).
Thoracic aortic aneurysm or dissection v1.89 TNXB Rebecca Whittington commented on gene: TNXB: Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype.
Thoracic aortic aneurysm or dissection v1.89 MFAP5 Rebecca Whittington commented on gene: MFAP5: Barbier et al 2014 Am J Hum Genet 95:736 PMID:25434006 describe one missense variant c.62G>T (p.Trp21Leu) (MAF 0.0036% 10 alleles - quite high) and one nonsense variant (in final exon) c.472C>T (p.Arg158*) (MAF 0.0045% 11 alleles) in patients with syndromic/non-syndromic thoracic aortic aneurysm and dissections and no previous genetic diagnoisis. The nonsense variant segregates in 4 affected family members (also present in one unaffected 83 year-old and two family members with ambiguous phenotypes - incomplete penetrance?) and the missense variant in two affected family members (plus one younger family member with ambigous phenotype). Functional studies on aortic tissue (following surgery) from the missense variant showed disorganisation of the tunica media with loss of smooth muscle cells and showed enhanced TGF-b signaling in patient compared to healthy aorta. Schubert et al 2016 Am J Med Genet A 170A:1288 PMID:26854089 indentified an additional MFAP5 variant in a TAA cohort - patient also as an MYLK variant. Both missense and classified as VUS. MFAP5 variant is c.341G>A p.Arg114Gln (MAF ASJ 0.34% (56 alleles)) and has stronger supporting BI than the MYLK variant.
Thoracic aortic aneurysm or dissection v1.89 LTBP2 Rebecca Whittington commented on gene: LTBP2: Haji-Seyed-Javadi et al 2012 Hum Mutat 33:1182 PMID:22539340 identified homozygous c.3529G>A (p.Val1177Met) in a patient with Weill-Marchesani syndrome and c.1642C >T (p.Arg548*) in a patient with Marfan syndrome. They comment that p.Arg548* may be contributing to MFS-related phenotypes but is not responsible for the MFS in that patient (abstract only). Two other variants associated with MFS on HGMD but these are in unavailable conference abstract. Don't think sufficient evidence for this gene.
Thoracic aortic aneurysm or dissection v1.89 KCNN1 Rebecca Whittington commented on gene: KCNN1: Kim et al 2013 J Hum Genet 58:521 PMID:23677057 KCNN2 identified as a susceptiblity locus for coronary artery aneurysms in GWAS study
Thoracic aortic aneurysm or dissection v1.89 HNRNPK Rebecca Whittington commented on gene: HNRNPK: Au et al 2018 Eur J Hum Genet 26:1272 PMID:29904177 summarise a total of 9 patients with de novo LoF variants in NHRNPK, one with a de novo missense variant and 3 with de novo large deletions including HNRNPK in Au-Kline syndrome (abstract only)
Thoracic aortic aneurysm or dissection v1.89 FKBP14 Rebecca Whittington commented on gene: FKBP14: 6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture.
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 v1.89 COL2A1 Rebecca Whittington commented on gene: COL2A1: Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.
Thoracic aortic aneurysm or dissection v1.89 CHST14 Rebecca Whittington commented on gene: CHST14: Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present.
Thoracic aortic aneurysm or dissection v1.89 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: Publications support role for this gene in a cutis laxa phenotype, e.g. Fischer-Zernsak et al (Am J Hum Genet 2015 97:483 PMID:26320891) which shows 3 different de novo variants affecting the same nucleotide in 8 families with a progeroid presentation of AD cutis laxa. No aortic involvement so insufficient to justify inclusion on panel unless overlapping features with relevant diseases is considered.
Thoracic aortic aneurysm or dissection v1.89 ABCC6 Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Thoracic aortic aneurysm or dissection v1.89 PKD1 Rebecca Whittington commented on gene: PKD1: Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.
Thoracic aortic aneurysm or dissection v1.89 MED12 Rebecca Whittington commented on gene: MED12: Khan et al 2016 Clin Med Insights Case Rep 9:115 describes this as being an intellectual disability syndrome with Marfanoid features. Patient has variant c.3020A>G p.Asn1007Ser, which has been reported several times with functional studies. This patient does not have aortic involvement and review of literature suggests that intellectual disability and Marfaniod body habitus are usual features with this variant and not aortic.
Thoracic aortic aneurysm or dissection v1.89 FLCN Rebecca Whittington commented on gene: FLCN: Liu et al 2017 Orphanet J Rare dis 12:104 PMID:28558743 characterise several FLCN variants in a chinese Birt-Hogg-Dube cohort and comment on comparision with mutations found in Western cohorts, but do not mention any cardiac involvement
Thoracic aortic aneurysm or dissection v1.89 COL1A2 Rebecca Whittington commented on gene: COL1A2: Schwarze et al 2004 Am J Hum Genet 74:917 PMID:15077201 identified truncating variants - splice variants affecting +/-1 position (compound heterozygous) and nonsense (homozygous) that lead to disease through NMD.
Thoracic aortic aneurysm or dissection v1.89 COL1A1 Rebecca Whittington commented on gene: COL1A1: Weerakkody et al 2016 Genet Med 18:1119 PMID:27011056 is one of several publications identifying variants in COL1A1 in EDS patients. One frameshift and two missense (affecting glycine in the G-X-Y collagen triple-helix motif) variants are described: c.1265delG: p.Gly422AlafsX119; c.643G>A: p.Gly215Ser; c.662G>C: p.Gly221Ala. None of these have any gnomAD frequency.
Thoracic aortic aneurysm or dissection v1.89 BGN Rebecca Whittington commented on gene: BGN: Meester et al 2017 Genet Med 19:386 PMID:27632686 report one nonsense, two missense and two large deletions affecting multiple exons of BGN but no additional genes. Nonsense variant c.5G>A, p.Trp2* with no gnomAD freq, seg in two affected family members and 2 ClinVar submissions as pathogenic. Missense variants c.908A>C, p.Gln303Pro and c.238G>A,p.Gly80Ser both with no gnomAD freq and 2 ClinVar submissions as pathogenic.
Thoracic aortic aneurysm or dissection v1.89 ABL1 Rebecca Whittington commented on gene: ABL1: Wang et al 2017 Nat Genet 49:613 PMID 28288113 describe two variants: c.734A>G (p.Tyr245Cys) found de novo in 5 individuals from 3 families (segregates with disease in two affected individuals from each of 2 families) and c.1066G>A (p.Ala356Thr) found de novo in a single family. Both variants are well conserved and affect the kinase domain. Neither have any gnomAD frequency and both are reported as pathogenic by more than one source on ClinVar.
Thoracic aortic aneurysm or dissection v1.88 FOXE3 Rebecca Whittington reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 CBS Rebecca Whittington reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR2 Rebecca Whittington reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR1 Rebecca Whittington reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB2 Rebecca Whittington reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD4 Rebecca Whittington reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD3 Rebecca Whittington reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD2 Rebecca Whittington reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SLC2A10 Rebecca Whittington reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 v1.88 PRKG1 Rebecca Whittington reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 PLOD1 Rebecca Whittington reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 NOTCH1 Rebecca Whittington reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYLK Rebecca Whittington reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYH11 Rebecca Whittington reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 LOX Rebecca Whittington reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FLNA Rebecca Whittington reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FBN2 Rebecca Whittington reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 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 v1.88 ELN Rebecca Whittington reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 EFEMP2 Rebecca Whittington reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A2 Rebecca Whittington reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A1 Rebecca Whittington reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL3A1 Rebecca Whittington reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ACTA2 Rebecca Whittington reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ZNF469 Rebecca Whittington reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 TNXB Rebecca Whittington reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 SLC39A13 Rebecca Whittington reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 MFAP5 Rebecca Whittington reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 LTBP2 Rebecca Whittington reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 KCNN1 Rebecca Whittington reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Thoracic aortic aneurysm or dissection v1.88 HNRNPK Rebecca Whittington reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 FKBP14 Rebecca Whittington reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 FBLN5 Rebecca Whittington reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A3 Rebecca Whittington reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL9A2 Rebecca Whittington reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A1 Rebecca Whittington reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL4A1 Rebecca Whittington reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL2A1 Rebecca Whittington reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL11A2 Rebecca Whittington reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL11A1 Rebecca Whittington reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 CHST14 Rebecca Whittington reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 B4GALT7 Rebecca Whittington reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ATP7A Rebecca Whittington reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ATP6V0A2 Rebecca Whittington reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ALDH18A1 Rebecca Whittington reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ADAMTS2 Rebecca Whittington reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ACVR1 Rebecca Whittington reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 ABCC6 Rebecca Whittington reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 PKD2 Rebecca Whittington reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 PKD1 Rebecca Whittington reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 MED12 Rebecca Whittington reviewed gene: MED12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 FLCN Rebecca Whittington reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL1A2 Rebecca Whittington reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL1A1 Rebecca Whittington reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 BGN Rebecca Whittington reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ABL1 Rebecca Whittington reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 FLCN Ataf Sabir reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24917291; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 ZNF469 Ellen McDonagh Source South West GLH was added to ZNF469.
Mode of inheritance for gene ZNF469 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 TNXB Ellen McDonagh Source South West GLH was added to TNXB.
Mode of inheritance for gene TNXB was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 SLC39A13 Ellen McDonagh Source South West GLH was added to SLC39A13.
Mode of inheritance for gene SLC39A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 MFAP5 Ellen McDonagh Source South West GLH was added to MFAP5.
Mode of inheritance for gene MFAP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 LTBP2 Ellen McDonagh Source South West GLH was added to LTBP2.
Mode of inheritance for gene LTBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 KCNN1 Ellen McDonagh Source South West GLH was added to KCNN1.
Mode of inheritance for gene KCNN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Thoracic aortic aneurysm or dissection v1.87 HNRNPK Ellen McDonagh Source South West GLH was added to HNRNPK.
Thoracic aortic aneurysm or dissection v1.87 FOXE3 Ellen McDonagh Source South West GLH was added to FOXE3.
Mode of inheritance for gene FOXE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 FKBP14 Ellen McDonagh Source South West GLH was added to FKBP14.
Mode of inheritance for gene FKBP14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 FBLN5 Ellen McDonagh Source South West GLH was added to FBLN5.
Thoracic aortic aneurysm or dissection v1.87 COL9A3 Ellen McDonagh Source South West GLH was added to COL9A3.
Mode of inheritance for gene COL9A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL9A2 Ellen McDonagh Source South West GLH was added to COL9A2.
Mode of inheritance for gene COL9A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 COL9A1 Ellen McDonagh Source South West GLH was added to COL9A1.
Mode of inheritance for gene COL9A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL4A1 Ellen McDonagh Source South West GLH was added to COL4A1.
Mode of inheritance for gene COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL2A1 Ellen McDonagh Source South West GLH was added to COL2A1.
Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL11A2 Ellen McDonagh Source South West GLH was added to COL11A2.
Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 COL11A1 Ellen McDonagh Source South West GLH was added to COL11A1.
Mode of inheritance for gene COL11A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 CHST14 Ellen McDonagh Source South West GLH was added to CHST14.
Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 CBS Ellen McDonagh Source South West GLH was added to CBS.
Mode of inheritance for gene CBS was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 B4GALT7 Ellen McDonagh Source South West GLH was added to B4GALT7.
Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 ATP7A Ellen McDonagh Source South West GLH was added to ATP7A.
Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.87 ATP6V0A2 Ellen McDonagh Source South West GLH was added to ATP6V0A2.
Mode of inheritance for gene ATP6V0A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 ALDH18A1 Ellen McDonagh Source South West GLH was added to ALDH18A1.
Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 ADAMTS2 Ellen McDonagh Source South West GLH was added to ADAMTS2.
Mode of inheritance for gene ADAMTS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 ACVR1 Ellen McDonagh Source South West GLH was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 ABCC6 Ellen McDonagh Source South West GLH was added to ABCC6.
Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 PKD2 Ellen McDonagh Source South West GLH was added to PKD2.
Mode of inheritance for gene PKD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 PKD1 Ellen McDonagh Source South West GLH was added to PKD1.
Mode of inheritance for gene PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 TGFBR2 Ellen McDonagh Source South West GLH was added to TGFBR2.
Mode of inheritance for gene TGFBR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 TGFBR1 Ellen McDonagh Source South West GLH was added to TGFBR1.
Mode of inheritance for gene TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 TGFB3 Ellen McDonagh Source South West GLH was added to TGFB3.
Thoracic aortic aneurysm or dissection v1.87 TGFB2 Ellen McDonagh Source South West GLH was added to TGFB2.
Thoracic aortic aneurysm or dissection v1.87 SMAD4 Ellen McDonagh Source South West GLH was added to SMAD4.
Thoracic aortic aneurysm or dissection v1.87 SMAD3 Ellen McDonagh Source South West GLH was added to SMAD3.
Mode of inheritance for gene SMAD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 SMAD2 Ellen McDonagh Source South West GLH was added to SMAD2.
Mode of inheritance for gene SMAD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 SLC2A10 Ellen McDonagh Source South West GLH was added to SLC2A10.
Mode of inheritance for gene SLC2A10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 SKI Ellen McDonagh Source South West GLH was added to SKI.
Thoracic aortic aneurysm or dissection v1.87 PRKG1 Ellen McDonagh Source South West GLH was added to PRKG1.
Thoracic aortic aneurysm or dissection v1.87 PLOD1 Ellen McDonagh Source South West GLH was added to PLOD1.
Thoracic aortic aneurysm or dissection v1.87 NOTCH1 Ellen McDonagh Source South West GLH was added to NOTCH1.
Thoracic aortic aneurysm or dissection v1.87 MYLK Ellen McDonagh Source South West GLH was added to MYLK.
Mode of inheritance for gene MYLK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 MYH11 Ellen McDonagh Source South West GLH was added to MYH11.
Mode of inheritance for gene MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 MED12 Ellen McDonagh Source South West GLH was added to MED12.
Thoracic aortic aneurysm or dissection v1.87 LOX Ellen McDonagh Source South West GLH was added to LOX.
Thoracic aortic aneurysm or dissection v1.87 FLNA Ellen McDonagh Source South West GLH was added to FLNA.
Mode of inheritance for gene FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.87 FLCN Ellen McDonagh Source South West GLH was added to FLCN.
Mode of inheritance for gene FLCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 FBN2 Ellen McDonagh Source South West GLH was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Thoracic aortic aneurysm or dissection v1.87 ELN Ellen McDonagh Source South West GLH was added to ELN.
Thoracic aortic aneurysm or dissection v1.87 EFEMP2 Ellen McDonagh Source South West GLH was added to EFEMP2.
Thoracic aortic aneurysm or dissection v1.87 COL5A2 Ellen McDonagh Source South West GLH was added to COL5A2.
Thoracic aortic aneurysm or dissection v1.87 COL5A1 Ellen McDonagh Source South West GLH was added to COL5A1.
Thoracic aortic aneurysm or dissection v1.87 COL3A1 Ellen McDonagh Source South West GLH was added to COL3A1.
Mode of inheritance for gene COL3A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL1A2 Ellen McDonagh Source South West GLH was added to COL1A2.
Mode of inheritance for gene COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 COL1A1 Ellen McDonagh Source South West GLH was added to COL1A1.
Thoracic aortic aneurysm or dissection v1.87 BGN Ellen McDonagh Source South West GLH was added to BGN.
Mode of inheritance for gene BGN was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.87 ACTA2 Ellen McDonagh Source South West GLH was added to ACTA2.
Thoracic aortic aneurysm or dissection v1.87 ABL1 Ellen McDonagh Source South West GLH was added to ABL1.
Mode of inheritance for gene ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.86 SMAD6 Ellen McDonagh reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 MYLK2 Ellen McDonagh reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 MAT2A Ellen McDonagh reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 EMILIN1 Ellen McDonagh reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 MFAP5 Ellen McDonagh reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 FOXE3 Ellen McDonagh edited their review of gene: FOXE3: 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 v1.86 PLOD1 Ellen McDonagh reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 TGFBR2 Ellen McDonagh edited their review of gene: TGFBR2: 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 v1.86 TGFBR1 Ellen McDonagh edited their review of gene: TGFBR1: 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 v1.86 TGFB3 Ellen McDonagh edited their review of gene: TGFB3: 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 v1.86 TGFB2 Ellen McDonagh edited their review of gene: TGFB2: 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 v1.86 SMAD4 Ellen McDonagh edited their review of gene: SMAD4: 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 v1.86 SMAD3 Ellen McDonagh edited their review of gene: SMAD3: 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 v1.86 SMAD2 Ellen McDonagh reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 SLC2A10 Ellen McDonagh edited their review of gene: SLC2A10: 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 v1.86 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 v1.86 PRKG1 Ellen McDonagh edited their review of gene: PRKG1: 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 v1.86 NOTCH1 Ellen McDonagh edited their review of gene: NOTCH1: 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 v1.86 MYLK Ellen McDonagh edited their review of gene: MYLK: 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 v1.86 MYH11 Ellen McDonagh edited their review of gene: MYH11: 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 v1.86 MED12 Ellen McDonagh edited their review of gene: MED12: 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 v1.86 LOX Ellen McDonagh reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 FLNA Ellen McDonagh edited their review of gene: FLNA: 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 v1.86 FLCN Ellen McDonagh reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 FBN2 Ellen McDonagh edited their review of gene: FBN2: 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 v1.86 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 v1.86 ELN Ellen McDonagh edited their review of gene: ELN: 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 v1.86 EFEMP2 Ellen McDonagh edited their review of gene: EFEMP2: 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 v1.86 COL5A2 Ellen McDonagh edited their review of gene: COL5A2: 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 v1.86 COL5A1 Ellen McDonagh edited their review of gene: COL5A1: 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 v1.86 COL3A1 Ellen McDonagh edited their review of gene: COL3A1: 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 v1.86 COL1A2 Ellen McDonagh edited their review of gene: COL1A2: 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 v1.86 COL1A1 Ellen McDonagh edited their review of gene: COL1A1: 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 v1.86 BGN Ellen McDonagh reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.86 ACTA2 Ellen McDonagh edited their review of gene: ACTA2: 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 SMAD6 Ellen McDonagh gene: SMAD6 was added
gene: SMAD6 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH
Mode of inheritance for gene: SMAD6 was set to
Thoracic aortic aneurysm or dissection v1.85 MYLK2 Ellen McDonagh gene: MYLK2 was added
gene: MYLK2 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH
Mode of inheritance for gene: MYLK2 was set to
Thoracic aortic aneurysm or dissection v1.85 MAT2A Ellen McDonagh gene: MAT2A was added
gene: MAT2A was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH
Mode of inheritance for gene: MAT2A was set to
Thoracic aortic aneurysm or dissection v1.85 EMILIN1 Ellen McDonagh gene: EMILIN1 was added
gene: EMILIN1 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH
Mode of inheritance for gene: EMILIN1 was set to
Thoracic aortic aneurysm or dissection v1.85 MFAP5 Ellen McDonagh Source London South GLH was added to MFAP5.
Thoracic aortic aneurysm or dissection v1.85 FOXE3 Ellen McDonagh Source London South GLH was added to FOXE3.
Thoracic aortic aneurysm or dissection v1.85 PLOD1 Ellen McDonagh Source London South GLH was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 TGFBR2 Ellen McDonagh Source London South GLH was added to TGFBR2.
Thoracic aortic aneurysm or dissection v1.85 TGFBR1 Ellen McDonagh Source London South GLH was added to TGFBR1.
Thoracic aortic aneurysm or dissection v1.85 TGFB3 Ellen McDonagh Source London South GLH was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 TGFB2 Ellen McDonagh Source London South GLH was added to TGFB2.
Thoracic aortic aneurysm or dissection v1.85 SMAD4 Ellen McDonagh Source London South GLH was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 SMAD3 Ellen McDonagh Source London South GLH was added to SMAD3.
Thoracic aortic aneurysm or dissection v1.85 SMAD2 Ellen McDonagh Source London South GLH was added to SMAD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 SLC2A10 Ellen McDonagh Source London South GLH was added to SLC2A10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 SKI Ellen McDonagh Source London South GLH was added to SKI.
Thoracic aortic aneurysm or dissection v1.85 PRKG1 Ellen McDonagh Source London South GLH was added to PRKG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 NOTCH1 Ellen McDonagh Source London South GLH was added to NOTCH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 MYLK Ellen McDonagh Source London South GLH was added to MYLK.
Thoracic aortic aneurysm or dissection v1.85 MYH11 Ellen McDonagh Source London South GLH was added to MYH11.
Thoracic aortic aneurysm or dissection v1.85 MED12 Ellen McDonagh Source London South GLH was added to MED12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 LOX Ellen McDonagh Source London South GLH was added to LOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 FLNA Ellen McDonagh Source London South GLH was added to FLNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 FLCN Ellen McDonagh Source London South GLH was added to FLCN.
Thoracic aortic aneurysm or dissection v1.85 FBN2 Ellen McDonagh Source London South GLH was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 FBN1 Ellen McDonagh Source London South GLH was added to FBN1.
Thoracic aortic aneurysm or dissection v1.85 ELN Ellen McDonagh Source London South GLH was added to ELN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 EFEMP2 Ellen McDonagh Source London South GLH was added to EFEMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 COL5A2 Ellen McDonagh Source London South GLH was added to COL5A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 COL5A1 Ellen McDonagh Source London South GLH was added to COL5A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 COL3A1 Ellen McDonagh Source London South GLH was added to COL3A1.
Thoracic aortic aneurysm or dissection v1.85 COL1A2 Ellen McDonagh Source London South GLH was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 COL1A1 Ellen McDonagh Source London South GLH was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 BGN Ellen McDonagh Source London South GLH was added to BGN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.85 ACTA2 Ellen McDonagh Source London South GLH was added to ACTA2.
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
Thoracic aortic aneurysm or dissection v1.84 TGFBR2 James Eden reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16928994; Phenotypes: Loeys Dietz syndrome, type 2 (610168); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 TGFBR1 James Eden reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16928994; Phenotypes: Loeys Dietz syndrome, type 1A (609192); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 TGFB2 James Eden reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 4 (614816); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 SMAD3 James Eden reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21217753, 29392890; Phenotypes: Loeys Dietz syndrome, type 3 (613795) ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
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 MYLK James Eden reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 21055718; Phenotypes: Aortic aneurysm, familial thoracic 7 (613780); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 MYH11 James Eden reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27081537; Phenotypes: Aortic aneurysm, familial thoracic 4 (132900) ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; 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 v1.84 COL3A1 James Eden reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25758994; Phenotypes: Ehlers-Danlos syndrome, vascular type (130050); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 ACTA2 James Eden reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 (611788), Moyamoya disease 5 (614042), Multisystemic smooth muscle dysfunction syndrome (613834); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.83 TGFBR2 Ellen McDonagh Source North West GLH was added to TGFBR2.
Added phenotypes Loeys Dietz syndrome, type 2 (610168) for gene: TGFBR2
Publications for gene TGFBR2 were changed from to 16928994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 TGFBR1 Ellen McDonagh Source North West GLH was added to TGFBR1.
Added phenotypes Loeys Dietz syndrome, type 1A (609192) for gene: TGFBR1
Publications for gene TGFBR1 were changed from to 16928994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 TGFB2 Ellen McDonagh Source North West GLH was added to TGFB2.
Added phenotypes Loeys-Dietz syndrome 4 (614816) for gene: TGFB2
Publications for gene TGFB2 were changed from 22772368; 22772371 to 29392890
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 SMAD3 Ellen McDonagh Source North West GLH was added to SMAD3.
Added phenotypes Loeys Dietz syndrome, type 3 (613795) for gene: SMAD3
Publications for gene SMAD3 were changed from to 21217753; 29392890
Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Thoracic aortic aneurysm or dissection v1.83 MYLK Ellen McDonagh Source North West GLH was added to MYLK.
Added phenotypes Aortic aneurysm, familial thoracic 7 (613780) for gene: MYLK
Publications for gene MYLK were changed from to 21055718
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 MYH11 Ellen McDonagh Source North West GLH was added to MYH11.
Added phenotypes Aortic aneurysm, familial thoracic 4 (132900) for gene: MYH11
Publications for gene MYH11 were changed from to 27081537
Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Thoracic aortic aneurysm or dissection v1.83 COL3A1 Ellen McDonagh Source North West GLH was added to COL3A1.
Added phenotypes Ehlers-Danlos syndrome, vascular type (130050) for gene: COL3A1
Publications for gene COL3A1 were changed from to 25758994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 ACTA2 Ellen McDonagh Source North West GLH was added to ACTA2.
Added phenotypes Moyamoya disease 5 (614042); Multisystemic smooth muscle dysfunction syndrome (613834); Aortic aneurysm, familial thoracic 6 (611788) for gene: ACTA2
Publications for gene ACTA2 were changed from to 17994018
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.82 MFAP5 Anna de Burca reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26854089; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.81 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767) to Congenital heart defects and skeletal malformations syndrome, 617602; Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767)
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger commented on gene: ABL1: Added 'missense' tag.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Tag missense tag was added to gene: ABL1.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Gene was added by Chris Buxton based on evidence in PMID:28288113. Although CB rated the gene Red, mild aortic root dilation/mild coarctation of the aorta is seen in patients from 3 families. Therefore phenotype is relevant to panel and sufficient unrelated cases to support diagnostic rating, as agreed by Helen Brittain, clinical fellow.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection v1.79 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants).
Thoracic aortic aneurysm or dissection v1.79 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Thoracic aortic aneurysm or dissection v1.78 ABL1 Rebecca Foulger commented on gene: ABL1
Thoracic aortic aneurysm or dissection v1.78 ABL1 Rebecca Foulger Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection v1.77 ABL1 Chris Buxton gene: ABL1 was added
gene: ABL1 was added to Thoracic aortic aneurysm or dissection. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767)
Penetrance for gene: ABL1 were set to unknown
Mode of pathogenicity for gene: ABL1 was set to Other
Review for gene: ABL1 was set to RED
Added comment: Gain of function variants in this gene are described by Wang (2017, PMID 28288113) as a ddx for TGFB overexpression pathway disorders, eg Loeys Dietz, Shprintzen Goldberg, Marfan syndrome.

Wang X et al., Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr;49(4):613-617.
Sources: Literature
Thoracic aortic aneurysm or dissection v1.77 Ellen McDonagh List of related panels changed from Familial retinal arteriolar tortuosity;FTAAD;Familial Thoracic Aortic Aneurysm Disease to Familial retinal arteriolar tortuosity; FTAAD; Familial Thoracic Aortic Aneurysm Disease
Thoracic aortic aneurysm or dissection v1.76 Ellen McDonagh Panel name changed from Familial Thoracic Aortic Aneurysm Disease to Thoracic aortic aneurysm or dissection
List of related panels changed from Familial retinal arteriolar tortuosity; FTAAD to Familial retinal arteriolar tortuosity;FTAAD;Familial Thoracic Aortic Aneurysm Disease
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Thoracic aortic aneurysm or dissection EFEMP2 Rebecca Foulger commented on EFEMP2
Thoracic aortic aneurysm or dissection MED12 Rebecca Foulger commented on MED12
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain marked SMAD2 as ready
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain classified SMAD2 as green
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain marked PLOD1 as ready
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain classified PLOD1 as green
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain reviewed SMAD2
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain reviewed PLOD1
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger commented on SMAD2
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger added SMAD2 to panel
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger reviewed SMAD2
Thoracic aortic aneurysm or dissection PLOD1 Rebecca Foulger added PLOD1 to panel
Thoracic aortic aneurysm or dissection PLOD1 Rebecca Foulger reviewed PLOD1
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger marked BGN as ready
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger classified BGN as green
Thoracic aortic aneurysm or dissection LOX Rebecca Foulger marked LOX as ready
Thoracic aortic aneurysm or dissection LOX Rebecca Foulger classified LOX as green
Thoracic aortic aneurysm or dissection ELN Rebecca Foulger commented on ELN
Thoracic aortic aneurysm or dissection TGFB3 Rebecca Foulger commented on TGFB3
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger commented on BGN
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger commented on BGN
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger added BGN to panel
Thoracic aortic aneurysm or dissection BGN Rebecca Foulger reviewed BGN
Thoracic aortic aneurysm or dissection SLC2A10 Rebecca Foulger commented on SLC2A10
Thoracic aortic aneurysm or dissection NOTCH1 Rebecca Foulger commented on NOTCH1
Thoracic aortic aneurysm or dissection NOTCH1 Rebecca Foulger commented on NOTCH1
Thoracic aortic aneurysm or dissection MFAP5 Rebecca Foulger added MFAP5 to panel
Thoracic aortic aneurysm or dissection MFAP5 Rebecca Foulger reviewed MFAP5
Thoracic aortic aneurysm or dissection FLNA Rebecca Foulger commented on FLNA
Thoracic aortic aneurysm or dissection ELN Rebecca Foulger commented on ELN
Thoracic aortic aneurysm or dissection COL5A2 Rebecca Foulger commented on COL5A2
Thoracic aortic aneurysm or dissection COL5A1 Rebecca Foulger commented on COL5A1
Thoracic aortic aneurysm or dissection COL1A2 Rebecca Foulger commented on COL1A2
Thoracic aortic aneurysm or dissection COL1A1 Rebecca Foulger commented on COL1A1
Thoracic aortic aneurysm or dissection COL1A1 Rebecca Foulger commented on COL1A1
Thoracic aortic aneurysm or dissection LOX Rebecca Foulger edited their review of LOX
Thoracic aortic aneurysm or dissection LOX Rebecca Foulger commented on LOX
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty commented on PKD1
Thoracic aortic aneurysm or dissection FLCN Louise Daugherty added FLCN to panel
Thoracic aortic aneurysm or dissection FLCN Louise Daugherty reviewed FLCN
Thoracic aortic aneurysm or dissection TGFB2 Louise Daugherty commented on TGFB2
Thoracic aortic aneurysm or dissection MED12 Louise Daugherty commented on MED12
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty commented on PKD1
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty commented on PKD2
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty added PKD2 to panel
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty reviewed PKD2
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty added PKD1 to panel
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty reviewed PKD1
Thoracic aortic aneurysm or dissection FOXE3 Ellen McDonagh added FOXE3 to panel
Thoracic aortic aneurysm or dissection FOXE3 Ellen McDonagh reviewed FOXE3
Thoracic aortic aneurysm or dissection LOX Bill Newman added LOX to panel
Thoracic aortic aneurysm or dissection LOX Bill Newman reviewed LOX