Corneal abnormalities

Gene: B3GLCT

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 families reported for Peter-plus syndrome.
Created: 20 Feb 2017, 5:21 p.m.

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome

Publications

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

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

B3GALTL was changed to B3GLCT

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for B3GALTL were set to Peters-plus syndrome 261540

20 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for B3GALTL were set to 16909395;18798333;19796186

20 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for B3GALTL were set to 16909395

20 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for B3GALTL was changed to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALTL was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B3GALTL was created by ellenmcdonagh