| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.137 | FOXE3 | Zornitza Stark Marked gene: FOXE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.137 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.137 | FOXE3 | Zornitza Stark Phenotypes for gene: FOXE3 were changed from to {Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM# 617349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.136 | FOXE3 | Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.136 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.130 | FOXE3 |
Ain Roesley 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 Added comment: 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 |
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