Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Polymicrogyria and Schizencephaly v0.186 | RAC1 |
Zornitza Stark changed review comment from: Additional individuals reported in PMID 35139179: polymicrogyria observed. Sources: Literature; to: Additional individuals reported in PMID 35139179: polymicrogyria observed. Variants clustered between Q61 and R68 within the switch II region of RAC1, and are postulated to be activating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.186 | RAC1 | Zornitza Stark Marked gene: RAC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.186 | RAC1 | Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.186 | RAC1 | Zornitza Stark Classified gene: RAC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.186 | RAC1 | Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.185 | RAC1 |
Zornitza Stark gene: RAC1 was added gene: RAC1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC1 were set to 35139179 Phenotypes for gene: RAC1 were set to Mental retardation, autosomal dominant 48, MIM# 617751 Review for gene: RAC1 was set to GREEN Added comment: Additional individuals reported in PMID 35139179: polymicrogyria observed. Sources: Literature |