Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.6104 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Mendeliome v0.6103 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Mendeliome v0.5558 AGO2 Zornitza Stark Marked gene: AGO2 as ready
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5558 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5557 AGO2 Zornitza Stark gene: AGO2 was added
gene: AGO2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO2 were set to 33199684
Phenotypes for gene: AGO2 were set to Intellectual disability
Review for gene: AGO2 was set to GREEN
Added comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature