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Retinal disorders

Gene: B3GLCT

Red List (low evidence)
B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

peters anomoly plus - retinal panel?
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Louise Daugherty (Genomics England Curator)

Need to update to current official HGNC gene symbol B3GLCT. added new-gene-name tag
Created: 18 Jan 2017, 4:49 p.m.
Created: 9 Dec 2016, 1:19 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

Phenotypes
Peters-plus syndrome

Created: 1 Jun 2016, 11:17 a.m.

Panel version: 0.173

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to B3GLCT.

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

B3GALTL was changed to B3GLCT

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from B3GALTL. Panel: Posterior segment abnormalities

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B3GALTL was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALTL was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red