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  2. Aortopathy_Connective Tissue Disorders
  3. FOXE3
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Aortopathy_Connective Tissue Disorders

Gene: FOXE3

Amber List (moderate evidence)
FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 30071989; classification from “moderate” to “limited” after expert review, because the data provided are limited to single supporting publications with few HTAAD families.

Gene validity curation by ClinGen in 2016 was "moderate", citing segregation in the large family and animal models (https://search.clinicalgenome.org/kb/gene-validity/8261, PMID: 26854927)
Sources: Literature
Created: 1 Jul 2020, 7:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 1 Jul 2020, 7:01 a.m.

Panel version: 0.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • {Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM# 617349
OMIM
601094
Clinvar variants
Variants in FOXE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxe3 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxe3 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FOXE3 was added gene: FOXE3 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: FOXE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXE3 were set to 30071989; 26854927 Review for gene: FOXE3 was set to AMBER