Osteogenesis imperfecta
Gene: B3GALT6
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on publications: added publications from reviewer suggestionCreated: 29 Mar 2017, 9:59 a.m.
Comment when marking as ready: Discussion in MDT meetingCreated: 10 May 2016, 12:31 p.m.
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
Source NHS GMS was added to B3GALT6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for B3GALT6 were set to 23664117; 23664118
Publications for B3GALT6 were set to 23664117; 23664118
Publications for B3GALT6 were set to 23664117; 23664118; 23664117
This gene has been classified as Green List (High Evidence).
Mode of inheritance for B3GALT6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
B3GALT6 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory