Genes in panel

Hereditary ataxia - adult onset

Gene: B4GAT1

Red List (low evidence)

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 12 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

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

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.

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

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

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: B4GAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: b4gat1 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 for gene: B4GAT1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to B4GAT1.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: B4GAT1 was added gene: B4GAT1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: B4GAT1 was set to