Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: B4GAT1

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high 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. There are also mouse models for this gene-disease association. The condition occurs in utero and affected individuals die early on in life. There is enough evidence for this gene to be Green.
Created: 18 Oct 2021, 10:56 a.m. | Last Modified: 18 Oct 2021, 10:56 a.m.
Panel Version: 2.241

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Q3_21_rating
OMIM
605517
Clinvar variants
Variants in B4GAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: B4GAT1 were set to 23359570

18 Oct 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: B4GAT1.

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: B4GAT1 was added gene: B4GAT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287