Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Likely inborn error of metabolism v1.47 LCT Ivone Leong Source NHS GMS was added to LCT.
Source London North GLH was added to LCT.
Likely inborn error of metabolism v1.47 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Source London North GLH was added to B3GLCT.
Likely inborn error of metabolism v0.4 LCT Ellen McDonagh gene: LCT was added
gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCT were set to 27604308
Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000
Likely inborn error of metabolism v0.4 B3GLCT Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT
Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395
Likely inborn error of metabolism v0.4 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 27604308
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)