Activity

Filter

Cancel
Date Panel Item Activity
1 actions
COVID-19 research v0.36 PGM3 Ellen McDonagh gene: PGM3 was added
gene: PGM3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24698316; 24589341; 24931394
Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816; Combined immunodeficiencies with associated or syndromic features; Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination; Combined immunodeficiency