Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.4193 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Mendeliome v0.4193 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Mendeliome v0.4193 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability
Mendeliome v0.4192 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Mendeliome v0.4191 PAK3 Zornitza Stark Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4190 PAK3 Zornitza Stark reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 32050918, 32005903, 31943058, 31843706, 31678216; Phenotypes: Mental retardation, X-linked 30/47, MIM# 300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4187 PAK3 Arina Puzriakova reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31943058; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAK3 was set to Unknown