Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hand and foot malformations v0.17 | EP300 | Bryony Thompson Marked gene: EP300 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hand and foot malformations v0.17 | EP300 | Bryony Thompson Gene: ep300 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hand and foot malformations v0.17 | EP300 | Bryony Thompson Classified gene: EP300 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hand and foot malformations v0.17 | EP300 | Bryony Thompson Added comment: Comment on list classification: Limb anomalies are a feature of Rubinstein-Taybi syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hand and foot malformations v0.17 | EP300 | Bryony Thompson Gene: ep300 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hand and foot malformations v0.0 | EP300 |
Bryony Thompson gene: EP300 was added gene: EP300 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 180849 |