Intellectual disability syndromic and non-syndromic
Gene: B3GALNT2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.

Individuals with isolated ID have also been reported, PMID 29273094.

More than 10 unrelated families reported.
Created: 19 Dec 2020, 5:56 a.m. | Last Modified: 19 Dec 2020, 5:56 a.m.

Panel Version: 0.3290

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071

Publications

Created: 19 Dec 2020, 5:56 a.m.
Last Modified: 19 Dec 2020, 5:56 a.m.
Panel version: 0.3290

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
MONDO:0014071

OMIM

610194

Clinvar variants

Variants in B3GALNT2

Penetrance

None

Publications

Panels with this gene