Osteogenesis imperfecta
Gene: B3GALT6EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B3GALT6; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Comment on publications: added publications from reviewer suggestionCreated: 29 Mar 2017, 9:59 a.m.
Chris Boustred (Genomics England)
Comment when marking as ready: Discussion in MDT meetingCreated: 10 May 2016, 12:31 p.m.
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Malfait et al - 3 unrelated Iranian families segregating SEMDJL1 with fractures.Created: 6 Oct 2015, 11:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEMDJL1; EDS progeroid
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Clefting
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Congenital disorders of glycosylation
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to B3GALT6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set publications
Louise Daugherty (Genomics England Curator)Publications for B3GALT6 were set to 23664117; 23664118
Set publications
Louise Daugherty (Genomics England Curator)Publications for B3GALT6 were set to 23664117; 23664118
Set publications
Louise Daugherty (Genomics England Curator)Publications for B3GALT6 were set to 23664117; 23664118; 23664117
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Chris Boustred (Genomics England)Mode of inheritance for B3GALT6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)B3GALT6 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory