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| BabyScreen+ newborn screening v1.114 | ZNF469 | Tommy Li Added phenotypes Brittle cornea syndrome MIM#229200 for gene: ZNF469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.347 | ZNF469 | Zornitza Stark Marked gene: ZNF469 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.347 | ZNF469 | Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.347 | ZNF469 | Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome to Brittle cornea syndrome MIM#229200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.346 | ZNF469 | Zornitza Stark Publications for gene: ZNF469 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.345 | ZNF469 | Zornitza Stark Classified gene: ZNF469 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.345 | ZNF469 | Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | ZNF469 |
Lilian Downie changed review comment from: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success |
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| BabyScreen+ newborn screening v0.270 | ZNF469 |
Lilian Downie changed review comment from: Well established gene-disease association. Severe, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success |
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| BabyScreen+ newborn screening v0.270 | ZNF469 | Lilian Downie reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | ZNF469 |
Zornitza Stark gene: ZNF469 was added gene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome |
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