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Thoracic aortic aneurysm and dissection v1.3 HEY2 Zornitza Stark gene: HEY2 was added
gene: HEY2 was added to Thoracic aortic aneurysm and dissection. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Thoracic aortic aneurysm and dissection v1.3 THSD4 Zornitza Stark gene: THSD4 was added
gene: THSD4 was added to Thoracic aortic aneurysm and dissection. Sources: Literature
Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4 were set to 32855533
Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4 was set to GREEN
Added comment: 5 heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Thoracic aortic aneurysm and dissection v1.3 FOXE3 Ivone Leong Tag for-review tag was added to gene: FOXE3.
Thoracic aortic aneurysm and dissection v1.3 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v1.3 Sarah Leigh Panel version has been signed off
Thoracic aortic aneurysm and dissection v1.0 Ivone Leong promoted panel to version 1.0
Thoracic aortic aneurysm and dissection v0.61 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Thoracic aortic aneurysm and dissection v0.60 SMAD6 Ivone Leong Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823
Thoracic aortic aneurysm and dissection v0.59 SMAD6 Ivone Leong Publications for gene: SMAD6 were set to
Thoracic aortic aneurysm and dissection v0.58 SMAD6 Ivone Leong Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.57 ABL1 Ivone Leong Classified gene: ABL1 as Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.57 ABL1 Ivone Leong Gene: abl1 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm and dissection v0.56 SMAD6 Ivone Leong Source Expert Review Green was added to SMAD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 SMAD4 Ivone Leong Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 SMAD2 Ivone Leong Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 PLOD1 Ivone Leong Source Expert Review Green was added to PLOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 MFAP5 Ivone Leong Source Expert Review Green was added to MFAP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 FOXE3 Ivone Leong Source Expert Review Green was added to FOXE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 FKBP14 Ivone Leong Source Expert Review Green was added to FKBP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 FBLN5 Ivone Leong Source Expert Review Green was added to FBLN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.56 ELN Ivone Leong Source Expert Review Green was added to ELN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.55 ABL1 Kate Thomson reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 SMAD6 Kate Thomson reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 SMAD4 Kate Thomson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 SMAD2 Kate Thomson reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 PLOD1 Kate Thomson reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 MFAP5 Kate Thomson reviewed gene: MFAP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 FOXE3 Kate Thomson reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 FLNA Kate Thomson reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 FKBP14 Kate Thomson reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 FBLN5 Kate Thomson reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.55 ELN Kate Thomson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.54 COL3A1 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from Monoallelic to Both monoallelic and biallelic based on expert reviews provided.
Thoracic aortic aneurysm and dissection v0.54 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 and dissection v0.53 TGFB3 Ivone Leong Publications for gene: TGFB3 were set to
Thoracic aortic aneurysm and dissection v0.52 SKI Ivone Leong Publications for gene: SKI were set to
Thoracic aortic aneurysm and dissection v0.51 PRKG1 Ivone Leong Publications for gene: PRKG1 were set to
Thoracic aortic aneurysm and dissection v0.50 NOTCH1 Ivone Leong Publications for gene: NOTCH1 were set to
Thoracic aortic aneurysm and dissection v0.49 MYLK Ivone Leong Publications for gene: MYLK were set to
Thoracic aortic aneurysm and dissection v0.48 FBN2 Ivone Leong Publications for gene: FBN2 were set to
Thoracic aortic aneurysm and dissection v0.47 EFEMP2 Ivone Leong Publications for gene: EFEMP2 were set to
Thoracic aortic aneurysm and dissection v0.46 COL5A2 Ivone Leong Publications for gene: COL5A2 were set to
Thoracic aortic aneurysm and dissection v0.45 CBS Ivone Leong Publications for gene: CBS were set to 747076; 18799873; 16733360; 2041851; 23525608
Thoracic aortic aneurysm and dissection v0.44 FOXE3 Ivone Leong Phenotypes for gene: FOXE3 were changed from {Aortic aneurysm, familial thoracic 11, susceptibility to} to Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349
Thoracic aortic aneurysm and dissection v0.43 FOXE3 Ivone Leong Publications for gene: FOXE3 were set to
Thoracic aortic aneurysm and dissection v0.42 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Cardiac valvular dysplasia, X-linked 314400
Thoracic aortic aneurysm and dissection v0.41 FLNA Ivone Leong Publications for gene: FLNA were set to
Thoracic aortic aneurysm and dissection v0.40 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557
Thoracic aortic aneurysm and dissection v0.39 FKBP14 Ivone Leong Publications for gene: FKBP14 were set to
Thoracic aortic aneurysm and dissection v0.38 ELN Ivone Leong Publications for gene: ELN were set to
Thoracic aortic aneurysm and dissection v0.37 ABL1 Ivone Leong Publications for gene: ABL1 were set to
Thoracic aortic aneurysm and dissection v0.36 LOX Ivone Leong Publications for gene: LOX were set to
Thoracic aortic aneurysm and dissection v0.35 ZNF469 Ivone Leong reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 TNXB Ivone Leong reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SLC39A13 Ivone Leong reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 PKD2 Ivone Leong reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 PKD1 Ivone Leong reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MYLK2 Ivone Leong reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MAT2A Ivone Leong reviewed gene: MAT2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 LTBP2 Ivone Leong reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 KCNN1 Ivone Leong reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 HNRNPK Ivone Leong reviewed gene: HNRNPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 EMILIN1 Ivone Leong reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL9A3 Ivone Leong reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL4A1 Ivone Leong reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL1A2 Ivone Leong reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL1A1 Ivone Leong reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL11A2 Ivone Leong reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 CHST14 Ivone Leong reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 B4GALT7 Ivone Leong reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ATP7A Ivone Leong reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ATP6V0A2 Ivone Leong reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ALDH18A1 Ivone Leong reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ADAMTS2 Ivone Leong reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ACVR1 Ivone Leong reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ABCC6 Ivone Leong reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MED12 Ivone Leong reviewed gene: MED12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 FLCN Ivone Leong reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SMAD6 Ivone Leong reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SMAD4 Ivone Leong reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SMAD2 Ivone Leong reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 PLOD1 Ivone Leong reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MFAP5 Ivone Leong reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 FOXE3 Ivone Leong reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 FLNA Ivone Leong edited their review of gene: FLNA: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Thoracic aortic aneurysm and dissection v0.35 FKBP14 Ivone Leong reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 FBLN5 Ivone Leong reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ELN Ivone Leong reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 ABL1 Ivone Leong reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 TGFBR2 Ivone Leong reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 TGFBR1 Ivone Leong reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 TGFB3 Ivone Leong edited their review of gene: TGFB3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 TGFB2 Ivone Leong reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SMAD3 Ivone Leong reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 SLC2A10 Ivone Leong edited their review of gene: SLC2A10: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 SKI Ivone Leong reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 PRKG1 Ivone Leong reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 NOTCH1 Ivone Leong reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MYLK Ivone Leong reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 MYH11 Ivone Leong reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 LOX Ivone Leong reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 FBN2 Ivone Leong edited their review of gene: FBN2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 FBN1 Ivone Leong reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 EFEMP2 Ivone Leong reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 COL5A2 Ivone Leong edited their review of gene: COL5A2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 COL5A1 Ivone Leong edited their review of gene: COL5A1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 COL3A1 Ivone Leong reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.35 CBS Ivone Leong edited their review of gene: CBS: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 BGN Ivone Leong edited their review of gene: BGN: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN
Thoracic aortic aneurysm and dissection v0.35 ACTA2 Ivone Leong reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm and dissection v0.34 MED12 Ivone Leong Source NHS GMS was added to MED12.
Source Expert Review Red was added to MED12.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.34 FLCN Ivone Leong Source NHS GMS was added to FLCN.
Source Expert Review Red was added to FLCN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.34 SMAD6 Ivone Leong Source NHS GMS was added to SMAD6.
Source Expert Review Amber was added to SMAD6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.34 PLOD1 Ivone Leong Source NHS GMS was added to PLOD1.
Source Expert Review Amber was added to PLOD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.34 FKBP14 Ivone Leong Source NHS GMS was added to FKBP14.
Source Expert Review Amber was added to FKBP14.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.34 FBLN5 Ivone Leong Source NHS GMS was added to FBLN5.
Source Expert Review Amber was added to FBLN5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.34 PRKG1 Ivone Leong Source Expert Review Green was added to PRKG1.
Source NHS GMS was added to PRKG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 NOTCH1 Ivone Leong Source Expert Review Green was added to NOTCH1.
Source NHS GMS was added to NOTCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 LOX Ivone Leong Source Expert Review Green was added to LOX.
Source NHS GMS was added to LOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 EFEMP2 Ivone Leong Source Expert Review Green was added to EFEMP2.
Source NHS GMS was added to EFEMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 COL5A2 Ivone Leong Source Expert Review Green was added to COL5A2.
Source NHS GMS was added to COL5A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 COL5A1 Ivone Leong Source Expert Review Green was added to COL5A1.
Source NHS GMS was added to COL5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.34 BGN Ivone Leong Source Expert Review Green was added to BGN.
Source NHS GMS was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.33 FBLN5 Ivone Leong Publications for gene: FBLN5 were set to
Thoracic aortic aneurysm and dissection v0.32 COL9A3 James Eden reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: 24765306; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 COL9A2 James Eden reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: ?Stickler syndrome, type V 614284, Epiphyseal dysplasia, multiple, 2 600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 COL9A1 James Eden reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: ?Epiphyseal dysplasia, multiple, 6 614135, Stickler syndrome, type IV 614134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 COL4A1 James Eden reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20558831; Phenotypes: ?Retinal arteries, tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Brain small vessel disease with or without ocular anomalies 175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 COL2A1 James Eden reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I 108300, Spondyloperipheral dysplasia 271700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 COL11A2 James Eden reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 13 601868, Deafness, autosomal recessive 53 609706, Fibrochondrogenesis 2 614524, Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 COL11A1 James Eden reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal dominant 37 618533, Fibrochondrogenesis 1 228520, Marshall syndrome 154780, Stickler syndrome, type II 604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 CHST14 James Eden reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ZNF469 James Eden reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: 24895405; Phenotypes: Brittle cornea syndrome 1 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 TNXB James Eden reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 23830591; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 606408, Vesicoureteral reflux 8 615963; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 PKD2 James Eden reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: None; Publications: 10615132, 12874107; Phenotypes: Polycystic kidney disease 2 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 PKD1 James Eden reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: 17656674, 18679710; Phenotypes: Polycystic kidney disease 1 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 LTBP2 James Eden reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 20179738; Phenotypes: ?Weill-Marchesani syndrome 3, recessive 614819, Glaucoma 3, primary congenital, D 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 KCNN1 James Eden reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Thoracic aortic aneurysm and dissection v0.32 HNRNPK James Eden reviewed gene: HNRNPK: Rating: RED; Mode of pathogenicity: None; Publications: 29904177; Phenotypes: Au-Kline syndrome 616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 SLC39A13 James Eden reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 B4GALT7 James Eden commented on gene: B4GALT7: Not significantly associated with aortopathy.
Thoracic aortic aneurysm and dissection v0.32 B4GALT7 James Eden reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: None; Publications: 26940150, 28882145; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ATP7A James Eden reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease 309400, Occipital horn syndrome 304150, Spinal muscular atrophy, distal, X-linked 3 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm and dissection v0.32 ATP6V0A2 James Eden commented on gene: ATP6V0A2: No significant association with aortopathy.
Thoracic aortic aneurysm and dissection v0.32 ATP6V0A2 James Eden reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: 19321599; Phenotypes: Cutis laxa, autosomal recessive, type IIA 219200, Wrinkly skin syndrome 278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ALDH18A1 James Eden reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ADAMTS2 James Eden reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: None; Publications: 26765342; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis typen 225410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ACVR1 James Eden reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 22536403; Phenotypes: Fibrodysplasia ossificans progressiva 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 EMILIN1 James Eden reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: None; Publications: 26462740; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 SMAD6 James Eden reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30796334, 28659821, 30963242; Phenotypes: Aortic valve disease 2 614823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 COL1A1 James Eden reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: 14630726; Phenotypes: Caffey disease 114000, Ehlers-Danlos syndrome, arthrochalasia type, 1 130060, Osteogenesis imperfecta, types I-IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 MYLK2 James Eden reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.32 FKBP14 James Eden reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 FBLN5 James Eden changed review comment from: Gene is associated with cutis laxa, which includes aortic symptoms.; to: Gene is associated with cutis laxa, which includes aortic symptoms. Also associated with age-related macular degeneration and autistic spectrum disorder in HGMD.
Thoracic aortic aneurysm and dissection v0.32 FBLN5 James Eden reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 12189163, 27089918; Phenotypes: ?Cutis laxa, autosomal dominant 2 614434, Cutis laxa, autosomal recessive, type IA 219100, Macular degeneration, age-related, 3 608895, Neuropathy, hereditary, with or without age-related macular degeneration 608895; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 ABCC6 James Eden reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: 28102862; Phenotypes: Pseudoxanthoma elasticum 264800, Pseudoxanthoma elasticum, forme fruste 177850, Arterial calcification, generalized, of infancy, 2 614473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.32 FLNA Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected.
Thoracic aortic aneurysm and dissection v0.32 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 and dissection v0.31 BGN Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected.
Thoracic aortic aneurysm and dissection v0.31 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 and dissection v0.30 SMAD4 James Eden reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050, Myhre syndrome 139210, Pancreatic cancer, somatic 260350, Polyposis, juvenile intestinal 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 PRKG1 James Eden reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 NOTCH1 James Eden reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907982, 18593716; Phenotypes: Aortic valve disease 1 109730, Adams-Oliver syndrome 5 616028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 MFAP5 James Eden reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006; Phenotypes: Aortic aneurysm, familial thoracic 9 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 MED12 James Eden reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: 28724790; Phenotypes: Lujan-Fryns syndrome 309520, Ohdo syndrome, X-linked 300895, Opitz-Kaveggia syndrome 305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm and dissection v0.30 LOX James Eden reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: Aortic aneurysm, familial thoracic 10 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 FOXE3 James Eden reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26854927; Phenotypes: Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 EFEMP2 James Eden reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310, 22440127; Phenotypes: Cutis laxa, autosomal recessive, type IB 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.30 COL5A2 James Eden reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 COL5A1 James Eden reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310; Phenotypes: Ehlers-Danlos syndrome, classic type, 1 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 SLC2A10 James Eden reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.30 FBN2 James Eden reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25944730, 29907982; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 PLOD1 James Eden changed review comment from: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve; to: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve.
Thoracic aortic aneurysm and dissection v0.30 PLOD1 James Eden reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23525417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.30 MAT2A James Eden reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557781; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 SMAD2 James Eden reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 FLNA James Eden reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29334594; Phenotypes: Cardiac valvular dysplasia, X-linked 314400; 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 and dissection v0.30 FLCN James Eden reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: 20618353; Phenotypes: Birt-Hogg-Dube syndrome 135150, Pneumothorax, primary spontaneous 173600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 ELN James Eden reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866049, 23250899, 27080061, 16085695; Phenotypes: Cutis laxa, autosomal dominant 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 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 and dissection v0.30 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 and dissection v0.30 TGFB3 James Eden reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25835445; Phenotypes: Arrhythmogenic right ventricular dysplasia 1 107970, Loeys-Dietz syndrome 5 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm and dissection v0.30 CBS James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in Manchester TAAD panel.
Thoracic aortic aneurysm and dissection v0.30 CBS James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether these are sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.
Thoracic aortic aneurysm and dissection v0.30 CBS James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this is sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether these are sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.
Thoracic aortic aneurysm and dissection v0.30 CBS James Eden reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 28980096; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types 236200, Thrombosis, hyperhomocysteinemic 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.30 EMILIN1 Matthew Edwards reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 SMAD2 Matthew Edwards changed review comment from: On CCGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity; to: On CGGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity
Thoracic aortic aneurysm and dissection v0.30 EFEMP2 Matthew Edwards reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20019329, 17937443, 22440127; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 SMAD4 Matthew Edwards reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25931195; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 SMAD2 Matthew Edwards reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome (not in OMIM); Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 PRKG1 Matthew Edwards reviewed gene: PRKG1: Rating: ; Mode of pathogenicity: None; Publications: 23910461, 27442293; Phenotypes: OMIM 615436 Aortic aneurysm, familial thoracic 8; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 PLOD1 Matthew Edwards reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15666309, 25277362; Phenotypes: OMIM 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 MYLK2 Matthew Edwards reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 MAT2A Matthew Edwards reviewed gene: MAT2A: Rating: RED; Mode of pathogenicity: None; Publications: 25557781; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 NOTCH1 Matthew Edwards reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 MFAP5 Matthew Edwards reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 MED12 Matthew Edwards reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 LOX Matthew Edwards reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: OMIM: 617168 Aortic aneurysm, familial thoracic 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 FOXE3 Matthew Edwards reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 FLNA Matthew Edwards reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334594; Phenotypes: OMIM: 314400 Cardiac valvular dysplasia, X-linked, 300049 Heterotopia, periventricular, 1 (amongst others); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 BGN Matthew Edwards reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686; Phenotypes: OMIM: 300989 Meester-Loeys syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 TGFBR2 Matthew Edwards reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 610168 Loeys-Dietz syndrome type 2; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 TGFBR1 Matthew Edwards reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 609192 Loeys-Dietz syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 TGFB3 Matthew Edwards reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25835445; Phenotypes: OMIM: 615582 Loeys-Dietz syndrome 5; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 TGFB2 Matthew Edwards reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 614816 Loeys-Dietz syndrome 4; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 SMAD3 Matthew Edwards reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 SLC2A10 Matthew Edwards reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 208050 Arterial tortuosity syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 SKI Matthew Edwards reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 MYH11 Matthew Edwards reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 132900 Aortic aneurysm, familial thoracic 4; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 ELN Matthew Edwards reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 123700 Cutis Laxa, 185500 supravalvar aortic stenosis; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 FBN2 Matthew Edwards reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 FBN1 Matthew Edwards reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 COL3A1 Matthew Edwards reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 CBS Matthew Edwards reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.30 ACTA2 Matthew Edwards reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.30 FBN2 Ivone Leong Classified gene: FBN2 as Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.30 FBN2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert reviews.
Thoracic aortic aneurysm and dissection v0.30 FBN2 Ivone Leong Gene: fbn2 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm and dissection v0.29 TGFB3 Ivone Leong Classified gene: TGFB3 as Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.29 TGFB3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm and dissection v0.29 TGFB3 Ivone Leong Gene: tgfb3 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm and dissection v0.28 CBS Ivone Leong Classified gene: CBS as Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.28 CBS Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm and dissection v0.28 CBS Ivone Leong Gene: cbs has been classified as Green List (High Evidence).
Thoracic aortic aneurysm and dissection v0.27 SLC2A10 Ivone Leong Classified gene: SLC2A10 as Green List (high evidence)
Thoracic aortic aneurysm and dissection v0.27 SLC2A10 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm and dissection v0.27 SLC2A10 Ivone Leong Gene: slc2a10 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm and dissection v0.26 COL5A1 Ivone Leong Classified gene: COL5A1 as Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.26 COL5A1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews.
Thoracic aortic aneurysm and dissection v0.26 COL5A1 Ivone Leong Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm and dissection v0.25 COL5A2 Ivone Leong Classified gene: COL5A2 as Amber List (moderate evidence)
Thoracic aortic aneurysm and dissection v0.25 COL5A2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews.
Thoracic aortic aneurysm and dissection v0.25 COL5A2 Ivone Leong Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm and dissection v0.24 CBS Ivone Leong Phenotypes for gene: CBS were changed from Marfan syndrome to Marfan syndrome; Homocystinuria, B6-responsive and nonresponsive types, 236200
Thoracic aortic aneurysm and dissection v0.23 SLC2A10 Ivone Leong Publications for gene: SLC2A10 were set to 22001912; 16550171
Thoracic aortic aneurysm and dissection v0.22 CBS Ivone Leong Publications for gene: CBS were set to
Thoracic aortic aneurysm and dissection v0.21 SLC2A10 Ivone Leong Publications for gene: SLC2A10 were set to
Thoracic aortic aneurysm and dissection v0.20 Ivone Leong List of related panels changed from to R125
Thoracic aortic aneurysm and dissection v0.19 COL11A2 Ivone Leong Publications for gene: COL11A2 were set to
Thoracic aortic aneurysm and dissection v0.18 TGFBR2 Ivone Leong Publications for gene: TGFBR2 were set to
Thoracic aortic aneurysm and dissection v0.17 TGFBR1 Ivone Leong Publications for gene: TGFBR1 were set to
Thoracic aortic aneurysm and dissection v0.16 TGFB2 Ivone Leong Publications for gene: TGFB2 were set to
Thoracic aortic aneurysm and dissection v0.15 SMAD3 Ivone Leong Publications for gene: SMAD3 were set to
Thoracic aortic aneurysm and dissection v0.14 MYH11 Ivone Leong Publications for gene: MYH11 were set to
Thoracic aortic aneurysm and dissection v0.13 ACTA2 Ivone Leong Publications for gene: ACTA2 were set to
Thoracic aortic aneurysm and dissection v0.12 FBN1 Ivone Leong Publications for gene: FBN1 were set to
Thoracic aortic aneurysm and dissection v0.11 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to
Thoracic aortic aneurysm and dissection v0.10 PLOD1 Ellen McDonagh Marked gene: PLOD1 as ready
Thoracic aortic aneurysm and dissection v0.10 PLOD1 Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.10 PLOD1 Ellen McDonagh Classified gene: PLOD1 as Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.10 PLOD1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm and dissection v0.10 PLOD1 Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.9 COL1A1 Ellen McDonagh Marked gene: COL1A1 as ready
Thoracic aortic aneurysm and dissection v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.9 COL1A1 Ellen McDonagh Classified gene: COL1A1 as Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.9 COL1A1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm and dissection v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.8 COL5A2 Ellen McDonagh Marked gene: COL5A2 as ready
Thoracic aortic aneurysm and dissection v0.8 COL5A2 Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.8 COL5A2 Ellen McDonagh Classified gene: COL5A2 as Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.8 COL5A2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm and dissection v0.8 COL5A2 Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.7 COL5A1 Ellen McDonagh Marked gene: COL5A1 as ready
Thoracic aortic aneurysm and dissection v0.7 COL5A1 Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.7 COL5A1 Ellen McDonagh Classified gene: COL5A1 as Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.7 COL5A1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm and dissection v0.7 COL5A1 Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.6 COL1A2 Ellen McDonagh Marked gene: COL1A2 as ready
Thoracic aortic aneurysm and dissection v0.6 COL1A2 Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.6 COL1A2 Ellen McDonagh Classified gene: COL1A2 as Red List (low evidence)
Thoracic aortic aneurysm and dissection v0.6 COL1A2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm and dissection v0.6 COL1A2 Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm and dissection v0.5 COL3A1 Alison Callaway reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 FBN1 Alison Callaway reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, Ectopia lentis; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 MYH11 Alison Callaway reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 SMAD3 Alison Callaway Deleted their review
Thoracic aortic aneurysm and dissection v0.5 SMAD3 Alison Callaway Deleted their comment
Thoracic aortic aneurysm and dissection v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.5 TGFBR2 Alison Callaway reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 TGFBR1 Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 TGFB2 Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 COL1A2 Alison Callaway changed review comment from: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).; to: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS (arthrochalasia type) OMIM #617821 and OI (OMIM #166210, 259420, 166220) and recessive EDS (cardiac valvular type)
Thoracic aortic aneurysm and dissection v0.5 COL1A1 Alison Callaway changed review comment from: Associated with EDS and OI, which overlap with TAAD.
Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI).; to: Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI). Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).
Thoracic aortic aneurysm and dissection v0.5 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 and dissection v0.5 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 and dissection v0.5 COL5A1 Alison Callaway reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 COL5A2 Alison Callaway reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 2; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 FBN2 Alison Callaway reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 SLC2A10 Alison Callaway reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 SMAD4 Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24424121, 25931195; Phenotypes: Myhre syndrome; Mode of inheritance: None
Thoracic aortic aneurysm and dissection v0.5 TGFB3 Alison Callaway reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.5 CBS Alison Callaway reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm and dissection v0.5 MYLK Matthew Edwards reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27586135, 21055718, 25907466; Phenotypes: Aortic aneurysm, familial thoracic 7 (613780); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.3 Ellen McDonagh Panel name changed from GMS FTAAD placeholder panel to Thoracic aortic aneurysm and dissection
Panel status changed from internal to public
Panel types changed to GMS Rare Disease Virtual
Thoracic aortic aneurysm and dissection v0.0 ZNF469 Ellen McDonagh gene: ZNF469 was added
gene: ZNF469 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 TNXB Ellen McDonagh gene: TNXB was added
gene: TNXB was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 SMAD6 Ellen McDonagh gene: SMAD6 was added
gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to
Thoracic aortic aneurysm and dissection v0.0 SLC39A13 Ellen McDonagh gene: SLC39A13 was added
gene: SLC39A13 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 PKD2 Ellen McDonagh gene: PKD2 was added
gene: PKD2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Connective Tissue Disorders; Polycystic kidney disease 2, 613095
Thoracic aortic aneurysm and dissection v0.0 PKD1 Ellen McDonagh gene: PKD1 was added
gene: PKD1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Connective Tissue Disorders; Polycystic kidney disease, adult type I,173900
Thoracic aortic aneurysm and dissection v0.0 MYLK2 Ellen McDonagh gene: MYLK2 was added
gene: MYLK2 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: MYLK2 was set to
Thoracic aortic aneurysm and dissection v0.0 MAT2A Ellen McDonagh gene: MAT2A was added
gene: MAT2A was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: MAT2A was set to
Thoracic aortic aneurysm and dissection v0.0 LTBP2 Ellen McDonagh gene: LTBP2 was added
gene: LTBP2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP2 were set to Marfan syndrome
Thoracic aortic aneurysm and dissection v0.0 KCNN1 Ellen McDonagh gene: KCNN1 was added
gene: KCNN1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: KCNN1 was set to Unknown
Thoracic aortic aneurysm and dissection v0.0 HNRNPK Ellen McDonagh gene: HNRNPK was added
gene: HNRNPK was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.0 FKBP14 Ellen McDonagh gene: FKBP14 was added
gene: FKBP14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 FBLN5 Ellen McDonagh gene: FBLN5 was added
gene: FBLN5 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 EMILIN1 Ellen McDonagh gene: EMILIN1 was added
gene: EMILIN1 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: EMILIN1 was set to
Thoracic aortic aneurysm and dissection v0.0 COL9A3 Ellen McDonagh gene: COL9A3 was added
gene: COL9A3 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.0 COL9A2 Ellen McDonagh gene: COL9A2 was added
gene: COL9A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 COL9A1 Ellen McDonagh gene: COL9A1 was added
gene: COL9A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.0 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
Thoracic aortic aneurysm and dissection v0.0 COL2A1 Ellen McDonagh gene: COL2A1 was added
gene: COL2A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.0 COL11A2 Ellen McDonagh gene: COL11A2 was added
gene: COL11A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 COL11A1 Ellen McDonagh gene: COL11A1 was added
gene: COL11A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Marfan syndrome
Thoracic aortic aneurysm and dissection v0.0 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm and dissection v0.0 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 ADAMTS2 Ellen McDonagh gene: ADAMTS2 was added
gene: ADAMTS2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 ACVR1 Ellen McDonagh gene: ACVR1 was added
gene: ACVR1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm and dissection v0.0 ABL1 Ellen McDonagh gene: ABL1 was added
gene: ABL1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABL1 were set to Failure to thrive in infancy (HP:0001531); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Congenital finger flexion contractures (HP:0005879); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767); Congenital heart defects and skeletal malformations syndrome, 617602; Scoliosis (HP:0002650); Congenital septal defect (HP:0004760)
Thoracic aortic aneurysm and dissection v0.0 ABCC6 Ellen McDonagh gene: ABCC6 was added
gene: ABCC6 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm and dissection v0.0 TGFB3 Ellen McDonagh gene: TGFB3 was added
gene: TGFB3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970
Thoracic aortic aneurysm and dissection v0.0 SMAD4 Ellen McDonagh gene: SMAD4 was added
gene: SMAD4 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Thoracic aortic aneurysm and dissection v0.0 SMAD2 Ellen McDonagh gene: SMAD2 was added
gene: SMAD2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD2 were set to arterial aneurysms and dissections
Thoracic aortic aneurysm and dissection v0.0 SLC2A10 Ellen McDonagh gene: SLC2A10 was added
gene: SLC2A10 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm and dissection v0.0 PRKG1 Ellen McDonagh gene: PRKG1 was added
gene: PRKG1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, 615436
Thoracic aortic aneurysm and dissection v0.0 PLOD1 Ellen McDonagh gene: PLOD1 was added
gene: PLOD1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI, 225400
Thoracic aortic aneurysm and dissection v0.0 NOTCH1 Ellen McDonagh gene: NOTCH1 was added
gene: NOTCH1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease 1, 109730
Thoracic aortic aneurysm and dissection v0.0 MFAP5 Ellen McDonagh gene: MFAP5 was added
gene: MFAP5 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic 9, 616166
Thoracic aortic aneurysm and dissection v0.0 MED12 Ellen McDonagh gene: MED12 was added
gene: MED12 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm and dissection v0.0 LOX Ellen McDonagh gene: LOX was added
gene: LOX was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, 617168; aortic aneurysm
Thoracic aortic aneurysm and dissection v0.0 FOXE3 Ellen McDonagh gene: FOXE3 was added
gene: FOXE3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FOXE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXE3 were set to {Aortic aneurysm, familial thoracic 11, susceptibility to}
Thoracic aortic aneurysm and dissection v0.0 FLNA Ellen McDonagh gene: FLNA was added
gene: FLNA was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm and dissection v0.0 FLCN Ellen McDonagh gene: FLCN was added
gene: FLCN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome,135150; Pneumothorax, primary spontaneous, 173600
Thoracic aortic aneurysm and dissection v0.0 FBN2 Ellen McDonagh gene: FBN2 was added
gene: FBN2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Congenital Contractural Arachnodactyly; Contractural arachnodactyly, congenital, 121050
Thoracic aortic aneurysm and dissection v0.0 ELN Ellen McDonagh gene: ELN was added
gene: ELN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis, 185500; Cutis laxa, autosomal dominant, 123700
Thoracic aortic aneurysm and dissection v0.0 EFEMP2 Ellen McDonagh gene: EFEMP2 was added
gene: EFEMP2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437; aortic aneurysm
Thoracic aortic aneurysm and dissection v0.0 COL5A2 Ellen McDonagh gene: COL5A2 was added
gene: COL5A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; multisystemic smooth muscle dysfunction syndrome
Thoracic aortic aneurysm and dissection v0.0 COL5A1 Ellen McDonagh gene: COL5A1 was added
gene: COL5A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome vascular type
Thoracic aortic aneurysm and dissection v0.0 COL1A2 Ellen McDonagh gene: COL1A2 was added
gene: COL1A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form; Ehlers-Danlos syndrome, type VIIB
Thoracic aortic aneurysm and dissection v0.0 COL1A1 Ellen McDonagh gene: COL1A1 was added
gene: COL1A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, classic, 130000; Ehlers-Danlos syndrome, type VIIA, 130060
Thoracic aortic aneurysm and dissection v0.0 BGN Ellen McDonagh gene: BGN was added
gene: BGN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to X-linked syndromic TAAD; syndromic thoracic aortic aneurysm and dissection
Thoracic aortic aneurysm and dissection v0.0 TGFBR2 Ellen McDonagh gene: TGFBR2 was added
gene: TGFBR2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1B, 610168; Loeys Dietz syndrome, type 2 (610168); Loeys Dietz syndrome, type 2B, 610380
Thoracic aortic aneurysm and dissection v0.0 TGFBR1 Ellen McDonagh gene: TGFBR1 was added
gene: TGFBR1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys Dietz syndrome, type 2A, 608967; Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1A, 609192; Loeys Dietz syndrome, type 1A (609192)
Thoracic aortic aneurysm and dissection v0.0 TGFB2 Ellen McDonagh gene: TGFB2 was added
gene: TGFB2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816; Loeys-Dietz syndrome 4 (614816)
Thoracic aortic aneurysm and dissection v0.0 SMAD3 Ellen McDonagh gene: SMAD3 was added
gene: SMAD3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys Dietz syndrome, type 3 (613795); Loeys Dietz syndrome, type 3, 613795
Thoracic aortic aneurysm and dissection v0.0 SKI Ellen McDonagh gene: SKI was added
gene: SKI was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg Craniosynostosis Syndrome, 182212; Shprintzen-Goldberg syndrome (182212); Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm and dissection v0.0 MYLK Ellen McDonagh gene: MYLK was added
gene: MYLK was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 (613780); Aortic aneurysm, familial thoracic 7, 613780
Thoracic aortic aneurysm and dissection v0.0 MYH11 Ellen McDonagh gene: MYH11 was added
gene: MYH11 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; Aortic aneurysm, familial thoracic 4 (132900)
Thoracic aortic aneurysm and dissection v0.0 FBN1 Ellen McDonagh gene: FBN1 was added
gene: FBN1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Weill-Marchesani syndrome 2, dominant, (608328); Marfan syndrome (154700); Ectopia lentis, familial (129600); Marfan lipodystrophy syndrome (616914); MASS syndrome (604308); Stiff skin syndrome (184900); Geleophysic dysplasia 2 (614185); Marfan Syndrome; Aortic aneurysm, ascending, and dissection; ongenital contracturalarachnodactyly; Acromicric dysplasia (102370)
Thoracic aortic aneurysm and dissection v0.0 COL3A1 Ellen McDonagh gene: COL3A1 was added
gene: COL3A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV, 130050; Loeys-Dietz syndrome; Ehlers-Danlos syndrome, vascular type (130050)
Thoracic aortic aneurysm and dissection v0.0 ACTA2 Ellen McDonagh gene: ACTA2 was added
gene: ACTA2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, 611788; Aortic aneurysm, familial thoracic 6 (611788); Thoracic aortic aneurysm and dissection; Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5 (614042); Thoracic Aortic Aneurysms and Aortic Dissections; Multisystemic smooth muscle dysfunction syndrome (613834); Moyamoya disease 5, 614042; Isolated familial thoracic aortic aneurysms and dissection
Thoracic aortic aneurysm and dissection v0.0 Ellen McDonagh Added panel GMS FTAAD placeholder panel