Hydrocephalus

Gene: B3GLCT

Green List (high evidence)

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence for causation, hydrocephalus a reported feature.
Created: 4 May 2017, 8:41 a.m.
>4 cases. Recurrent c.660 + 1G > A mutation seen amongst others (inc splice site and insertion). Multi-system phenotype and hydrocephalus a recognized feature in some.
Created: 27 Apr 2017, 1:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome 261540

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to B3GLCT.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

B3GALTL was changed to B3GLCT

5 Nov 2017, Gel status: 4

Removed Tag, Removed Tag

GEL ()

new-gene-name was removed from B3GALTL. Panel: Hydrocephalus b3glct was removed from B3GALTL. Panel: Hydrocephalus

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

31 May 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for B3GALTL were set to 18798333;16909395

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

27 Apr 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

B3GALTL was added to Hydrocephaluspanel. Sources: Literature

27 Apr 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

B3GALTL was created by helen.brittain