Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Fetal anomalies v1.712 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Fetal anomalies v1.711 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Monoallleic cases related to Aortic aneurysm, familial thoracic 11, susceptibility to and to some cases with an eye phenotype. Biallelic cases associated with an eye phenotype.
Fetal anomalies v1.711 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.710 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.134 FOXE3 Rebecca Foulger edited their review of gene: FOXE3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 FOXE3 Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 FOXE3 Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: FOXE3
Fetal anomalies v0.1 FOXE3 Rebecca Foulger gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA