Hereditary ataxia with onset in adulthood
Gene: B4GAT1

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

Created: 9 Mar 2022, 5:26 p.m.
Last Modified: 9 Mar 2022, 5:26 p.m.
Panel version: 2.144

Ivone Leong (Genomics England Curator)

Red List (low evidence)

This gene is associated with a phenotype in OMIM but not Gene2Phenotype. PMID:23877401 and 23359570 describes 2 unrelated families who have variants in B4GAT1 and have Walker-Warburg syndrome. The condition occurs in utero and affected individuals die early on in life. This gene should be demoted to Amber or Red as it is not adult onset.
Created: 18 Oct 2021, 10:54 a.m. | Last Modified: 18 Oct 2021, 10:54 a.m.

Panel Version: 2.90

Created: 18 Oct 2021, 10:54 a.m.
Last Modified: 18 Oct 2021, 10:54 a.m.
Panel version: 2.90

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Very early onset, appears to be lethal in early infancy. Cerebellar abnormalities reported. Two individual families but functional evidence for compound het missenses reported in first.
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy type A13, 615287

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Muscular dystrophy-dystroglycanopathy type A13, 615287

OMIM

605517

Clinvar variants

Variants in B4GAT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 1

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: B4GAT1.

9 Mar 2022, Gel status: 1

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to B4GAT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 Dec 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: B4GAT1.

18 Oct 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: B4GAT1 were set to

27 Apr 2019, Gel status: 3