Congenital disorders of glycosylation
Gene: B4GALT7EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 15 Dec 2016, 2:14 p.m.
Daniel Ungar (University of York, Department of Biology)
This is a defect of proteoglycan biosynthesisCreated: 12 Dec 2016, 11:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
- B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
- OMIM
- 604327
- Clinvar variants
- Variants in B4GALT7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- 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
- Thoracic aortic aneurysm or dissection (GMS)
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).
Set publications
Sarah Leigh (Genomics England Curator)Publications for B4GALT7 were set to 27827381
Added New Source
Sarah Leigh (Genomics England Curator)B4GALT7 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)B4GALT7 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)B4GALT7 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)B4GALT7 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)B4GALT7 was created by sleigh