Skeletal dysplasia
Gene: B3GLCT
Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.Created: 11 Dec 2019, 3:18 p.m. | Last Modified: 11 Dec 2019, 3:18 p.m.
Panel Version: 1.278
Adding gene to the panel from suggestion from Rhoda Akilapa. Growth retardation, short stature, and brachydactyly reported.
Sources: Expert ReviewCreated: 11 Dec 2019, 3:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Publications
Gene: b3glct has been classified as Green List (High Evidence).
gene: B3GLCT was added gene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 16909395; 23889335 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) Review for gene: B3GLCT was set to GREEN