Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Mendeliome v1.2274 PPA1 Zornitza Stark Marked gene: PPA1 as ready
Mendeliome v1.2274 PPA1 Zornitza Stark Gene: ppa1 has been classified as Red List (Low Evidence).
Mendeliome v1.2274 PPA1 Zornitza Stark gene: PPA1 was added
gene: PPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA1 were set to 37999237
Phenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116
Review for gene: PPA1 was set to RED
Added comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data.
Sources: Literature