Thoracic aortic aneurysm and dissection

Gene: FOXE3

Green List (high evidence)

FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 14 panels

8 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: All cases reported in PMID: 26854927 (Kuang et al 2016) are heterozygous so the MONOALLELIC mode of inheritance is appropriate for the Thoracic aortic aneurysms and acute aortic dissection phenotype.
Created: 1 Sep 2021, 2:32 p.m. | Last Modified: 1 Sep 2021, 2:32 p.m.
Panel Version: 1.16

Zornitza Stark (Australian Genomics)

I don't know

Rated as 'Uncertain' by ClinGen.
Created: 1 Jul 2020, 6:59 a.m. | Last Modified: 1 Jul 2020, 6:59 a.m.
Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349

Publications

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.55

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

James Eden (Manchester)

I don't know

Associated with TAAD in Kuang 2016 J Clin Invest.
Created: 2 Oct 2019, 11:06 a.m. | Last Modified: 2 Oct 2019, 11:06 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

On CGGL Royal Brompton TAAD currently, but no variants found so far. PMID:26854927 good evidence but probably need more for a green rating
Created: 18 Sep 2019, 7:42 p.m. | Last Modified: 18 Sep 2019, 7:42 p.m.
Panel Version: 0.30

Rebecca Whittington (South West GLH)

Green List (high evidence)

617349 susceptibility to aortic aneurysm
Created: 25 Mar 2019, 4:30 p.m.
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.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Two families described in PMID: 26854927.
Created: 12 Apr 2017, 3:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Aortic aneurysm, familial thoracic 11, susceptibility to}

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349
Tags
for-review
OMIM
601094
Clinvar variants
Variants in FOXE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FOXE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Oct 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: FOXE3.

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to FOXE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Nov 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXE3 were changed from {Aortic aneurysm, familial thoracic 11, susceptibility to} to Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349

18 Nov 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FOXE3 were set to

18 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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}