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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