Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Skeletal dysplasia v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 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: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421; 15669674; 10642602
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799