| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aortopathy_Connective Tissue Disorders v1.2 | ZNF469 | Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1 to Brittle cornea syndrome 1,MIM# 229200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.109 | ZNF469 | Bryony Thompson Marked gene: ZNF469 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.109 | ZNF469 | Bryony Thompson Gene: znf469 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.109 | ZNF469 | Bryony Thompson Classified gene: ZNF469 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.109 | ZNF469 | 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 v0.109 | ZNF469 | Bryony Thompson Gene: znf469 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | ZNF469 | Paul De Fazio edited their review of gene: ZNF469: Changed phenotypes: Brittle cornea syndrome 1 MIM# 229200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | ZNF469 |
Paul De Fazio gene: ZNF469 was added gene: ZNF469 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF469 were set to 28306229; 28306225 Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1 Review for gene: ZNF469 was set to GREEN gene: ZNF469 was marked as current diagnostic Added comment: Association with brittle cornea syndrome (BCS) is well-established. 32 patients with variants in ZNF469 and BCS are reviewed in PMID: 28306225. BCS is classified as a form of Ehlers-Danlos syndrome (PMID: 28306229). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||