Genetic Epilepsy
Gene: ALG13

ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000101901
EnsemblGeneIds (GRCh37): ENSG00000101901
OMIM: 300776, Gene2Phenotype
ALG13 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported.
Created: 30 Sep 2020, 9:34 a.m. | Last Modified: 30 Sep 2020, 9:34 a.m.

Panel Version: 0.863

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Congenital disorder of glycosylation, type Is (MIM# 300884)

Publications

Created: 30 Sep 2020, 9:34 a.m.
Last Modified: 30 Sep 2020, 9:34 a.m.
Panel version: 0.863

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Congenital disorder of glycosylation, type Is (MIM# 300884)

OMIM

300776

Clinvar variants

Variants in ALG13

Penetrance

None

Publications

Panels with this gene