Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Marked gene: FLNA as ready
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1 , MIM#300049
Periventricular Grey Matter Heterotopia v0.25 FLNA Zornitza Stark Publications for gene: FLNA were set to
Periventricular Grey Matter Heterotopia v0.24 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Periventricular Grey Matter Heterotopia v0.23 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9883725, 15668422, 15994863; Phenotypes: Heterotopia, periventricular, 1 , MIM#300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Periventricular Grey Matter Heterotopia v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: FLNA was set to Unknown