Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Classified gene: PHF6 as Green List (high evidence)
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1276 PHF6 Ain Roesley gene: PHF6 was added
gene: PHF6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHF6 were set to 32399860
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900
Penetrance for gene: PHF6 were set to unknown
Review for gene: PHF6 was set to GREEN
Added comment: Epilepsy is part of the phenotypic spectrum for Borjeson-Forssman-Lehmann syndrome (OMIM). At least 18 mutations known to date.
Sources: Literature