Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Skeletal dysplasia v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550