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Glaucoma (developmental)

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

five families reported, see B3GALT1
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome; 261540

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). five families reported, see B3GALT1
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome 261540

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.38

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 1:18 p.m.
Created: 9 Dec 2016, 1:18 p.m.

Panel version: 0.0

History Filter Activity

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: Glaucoma (developmental)

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

B3GALTL was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory