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Intellectual disability

Gene: B3GLCT

Green List (high evidence)

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 15 panels

4 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

Need to update to current official HGNC gene symbol B3GLCT. added new-gene-name tag
Created: 18 Jan 2017, 4:46 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: ID is part of the phenotype
Created: 8 Feb 2016, 2:01 a.m.

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

B3GALTL was changed to B3GLCT

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from B3GALTL. Panel: Intellectual disability

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for B3GALTL were set to 16909395

8 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALTL was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALTL was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALTL was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory