Lissencephaly and Band Heterotopia
Gene: B3GNT2

B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000170340
EnsemblGeneIds (GRCh37): ENSG00000170340
OMIM: 605581, Gene2Phenotype
B3GNT2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene previously known as B3GNT1. Two families reported. In one family, the brain phenotype was that of anencephaly, and in the second family cobblestone lishencephaly was reported.
Created: 7 Aug 2020, 10:56 a.m. | Last Modified: 7 Aug 2020, 10:56 a.m.

Panel Version: 0.43

No evidence currently for Mendelian disease association.
Created: 20 Nov 2019, 3:18 a.m. | Last Modified: 20 Nov 2019, 3:18 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy

Publications

Created: 20 Nov 2019, 3:18 a.m.
Last Modified: 20 Nov 2019, 3:18 a.m.
Panel version: 0.43

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Muscular dystrophy-dystroglycanopathy

OMIM

605581

Clinvar variants

Variants in B3GNT2

Penetrance

None

Publications

Panels with this gene