Likely inborn error of metabolism - targeted testing not possible
Gene: B3GLCTNew gene name for B3GALTL is B3GLCTCreated: 31 Oct 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Publications
Source NHS GMS was added to B3GLCT. Source London North GLH was added to B3GLCT.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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
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)