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Hydrocephalus

Gene: B3GNT2

Amber List (moderate evidence)
B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000170340
EnsemblGeneIds (GRCh37): ENSG00000170340
OMIM: 605581, Gene2Phenotype
B3GNT2 is in 1 panel

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 only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
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)

I don't know

Comment when marking as ready: Watchlist in view of two reported families to date.
Created: 4 May 2017, 8:46 a.m.
Comment on list classification: Only two families to date therefore insufficient evidence. Tagged as watchlist.
Created: 4 May 2017, 8:45 a.m.
Only two families to date, no clear functional work. Watchlist & amber at present. Previously known as B3GNT1
Created: 27 Apr 2017, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287

Publications

Created: 27 Apr 2017, 1:18 p.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Other
Phenotypes
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120
Tags
watchlist
OMIM
605581
Clinvar variants
Variants in B3GNT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to B3GNT2.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Apr 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

B3GNT2 was added to Hydrocephaluspanel. Sources: Other

27 Apr 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

B3GNT2 was created by helen.brittain