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Gene: B3GALNT2

Green List (high evidence)
B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 13 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies'
Created: 6 Sep 2024, 6:50 a.m. | Last Modified: 6 Sep 2024, 6:50 a.m.
Panel Version: 1.279
Created: 6 Sep 2024, 6:50 a.m.
Last Modified: 6 Sep 2024, 6:50 a.m.
Panel version: 1.279

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

PMIDs: 35338537, 38585583 include emerging prenatal detection of gene.
Created: 2 Sep 2024, 5:43 a.m. | Last Modified: 2 Sep 2024, 5:43 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3)

Publications

Created: 2 Sep 2024, 5:43 a.m.
Last Modified: 2 Sep 2024, 5:43 a.m.
Panel version: 1.248

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: b3galnt2 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: B3GALNT2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B3GALNT2 was added gene: B3GALNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)