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Osteogenesis imperfecta

Gene: B3GAT3

Red List (low evidence)

B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 13 panels

2 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Only two families described with variants in this gene thought to be pathogenic.
Created: 6 Oct 2015, 11:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects


History Filter Activity

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GAT3 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen