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| Congenital Heart Defect v0.228 | EP300 | Zornitza Stark Marked gene: EP300 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.228 | EP300 | Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.228 | EP300 | Zornitza Stark Marked gene: EP300 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.228 | EP300 | Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.228 | EP300 | Zornitza Stark Phenotypes for gene: EP300 were changed from Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia to Rubinstein-Taybi syndrome 2, MIM# 613684 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.227 | EP300 | Zornitza Stark Classified gene: EP300 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.227 | EP300 | Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.226 | EP300 | Zornitza Stark reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | EP300 |
Chloe Stutterd gene: EP300 was added gene: EP300 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EP300 were set to 24352918; 24476420 Phenotypes for gene: EP300 were set to Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia Penetrance for gene: EP300 were set to unknown Review for gene: EP300 was set to AMBER gene: EP300 was marked as current diagnostic Added comment: Included in Victor Chang CHD gene list. Mice homozygotes for targeted null mutations have CHD (MGI ID: 1276116). Five patients reported with with CHD (VSD, PFO, PDA, valve dysplasia), all with extra-cardiac features of Rubinstein–Taybi syndrome (24352918; 24476420). Sources: Expert list, Literature |
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