| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.110 | TNXB | Bryony Thompson Marked gene: TNXB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.110 | TNXB | Bryony Thompson Gene: tnxb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.110 | TNXB | Bryony Thompson Classified gene: TNXB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.110 | TNXB | Bryony Thompson Added comment: Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.110 | TNXB | Bryony Thompson Gene: tnxb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | TNXB |
Paul De Fazio gene: TNXB was added gene: TNXB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNXB were set to 28306229; 28306225; 23620400 Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 Review for gene: TNXB was set to GREEN gene: TNXB was marked as current diagnostic Added comment: Association with classic Ehlers-Danlos syndrome is well-established (PMID:28306229;28306225). Two families have also been described with Vesicoureteral Reflux caused by a heterozygous missense variant in this gene, some individuals were reported with asymptomatic joint hypermobility (PMID:23620400) Sources: Literature |
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