Callosome
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. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.
Created: 7 Aug 2020, 10:59 a.m. | Last Modified: 7 Aug 2020, 11:02 a.m.

Panel Version: 0.186

No evidence currently for Mendelian disease association.
Created: 20 Nov 2019, 3:24 a.m. | Last Modified: 20 Nov 2019, 3:24 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy

Publications

Created: 20 Nov 2019, 3:24 a.m.
Last Modified: 7 Aug 2020, 11:02 a.m.
Panel version: 0.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy-dystroglycanopathy

OMIM

605581

Clinvar variants

Variants in B3GNT2

Penetrance

None

Publications

Panels with this gene