Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Ehlers Danlos syndromes v0.4 TNXB Paul De Fazio Deleted their review
Ehlers Danlos syndromes v0.4 TNXB Paul De Fazio reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ehlers Danlos syndromes v0.1 TNXB Bryony Thompson Added phenotypes Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 for gene: TNXB
Ehlers Danlos syndromes v0.0 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Classical-like EDS; Ehlers-Danlos syndrome due to tenascin X deficiency, 606408