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| Arthrogryposis v0.391 | PPP3CA | Zornitza Stark Marked gene: PPP3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.391 | PPP3CA | Zornitza Stark Gene: ppp3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.373 | PPP3CA | Chirag Patel Classified gene: PPP3CA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.373 | PPP3CA | Chirag Patel Gene: ppp3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.372 | PPP3CA |
Chirag Patel gene: PPP3CA was added gene: PPP3CA was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP3CA were set to PMID: 29432562 Phenotypes for gene: PPP3CA were set to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265 Review for gene: PPP3CA was set to GREEN Added comment: 2 unrelated patients with arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Whole-exome sequencing (+ Sanger confirmation) found de novo heterozygous mutations in the autoinhibitory domain of PPP3CA gene. Using a yeast model, the mutations were found to be constitutively activating. Sources: Expert list |
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