Muscular dystrophy and myopathy_Paediatric
Gene: B4GAT1

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported and two animal models.
Created: 21 Apr 2020, 7:21 a.m. | Last Modified: 21 Apr 2020, 8:05 a.m.

Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Apr 2020, 7:21 a.m.
Last Modified: 21 Apr 2020, 8:05 a.m.
Panel version: 0.10

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 2 unrelated families with muscular dystrophy and a zebrafish modl.
Sources: Expert Review
Created: 24 Feb 2020, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Feb 2020, 2:20 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

605517

Clinvar variants

Variants in B4GAT1

Penetrance

None

Publications

Panels with this gene