Congenital disorders of glycosylation
Gene: B3GALT6EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported in both phenotypes.Created: 19 Dec 2016, 3:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Literature
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ehlers-Danlos syndrome, progeroid type, 2 615349
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Upload gene information
Sarah Leigh (Genomics England Curator)B3GALT6 was added to Congenital disorders of glycosylationpanel. Sources: Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)B3GALT6All sources for gene: B3GALT6 were removed
Upload gene information
Sarah Leigh (Genomics England Curator)B3GALT6 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Daniel Ungar (University of York, Department of Biology)B3GALT6 was added to Congenital disorders of glycosylationpanel. Sources: Literature
Created
Daniel Ungar (University of York, Department of Biology)B3GALT6 was created by ungardani