Congenital Disorders of Glycosylation
Gene: B4GALNT1

B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135454
EnsemblGeneIds (GRCh37): ENSG00000135454
OMIM: 601873, Gene2Phenotype
B4GALNT1 is in 9 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Summary: 8 families described in total.

The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).

5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551).

Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.
Created: 22 Jul 2020, 6:49 a.m. | Last Modified: 22 Jul 2020, 6:51 a.m.

Panel Version: 0.131

Phenotypes
Spastic paraplegia 26, autosomal recessive (MIM #609195)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jul 2020, 6:49 a.m.
Last Modified: 22 Jul 2020, 6:51 a.m.
Panel version: 0.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spastic paraplegia 26, autosomal recessive (MIM #609195)

OMIM

601873

Clinvar variants

Variants in B4GALNT1

Penetrance

None

Publications

Panels with this gene