Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Craniosynostosis v0.14 HUWE1 Bryony Thompson Marked gene: HUWE1 as ready
Craniosynostosis v0.14 HUWE1 Bryony Thompson Gene: huwe1 has been classified as Green List (High Evidence).
Craniosynostosis v0.14 HUWE1 Bryony Thompson Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type MIM#309590
Craniosynostosis v0.13 HUWE1 Bryony Thompson Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v0.12 HUWE1 Bryony Thompson reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HUWE1 was set to Unknown