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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 |