Osteogenesis imperfecta
Gene: B3GAT3
B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 11 panels
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
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
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Publications
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
- OMIM
- 606374
- Clinvar variants
- Variants in B3GAT3
- Penetrance
- Complete
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Clefting
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
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