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STRs in panel
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Skeletal dysplasia

Gene: B3GLCT

Green List (high evidence)

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 17 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 Review
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
OMIM
610308
Clinvar variants
Variants in B3GLCT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b3glct has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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