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

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

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 A, 13 615287
Tags
watchlist
OMIM
605581
Clinvar variants
Variants in B3GNT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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