Congenital disorders of glycosylation
Gene: ALG13

ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000101901
EnsemblGeneIds (GRCh37): ENSG00000101901
OMIM: 300776, Gene2Phenotype
ALG13 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: From OMIM and Gen2Phen
Created: 12 Aug 2019, 11:48 a.m. | Last Modified: 12 Aug 2019, 11:48 a.m.

Panel Version: 1.27

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 1 variant reported.
Created: 15 Dec 2016, 10:19 a.m.

Created: 15 Dec 2016, 10:19 a.m.

Panel version: 0.27

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Not all ALG13 mutant patients show defects in standard glycosylation disorder testing, but this does not rule out that glycosylation is the major cause for the pathogenic phenotype in all patients.
Created: 9 Dec 2016, 12:19 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 9 Dec 2016, 12:19 p.m.

Panel version: 0.4

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 Red
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Emory Genetics Laboratory

Phenotypes

Epileptic encephalopathy, early infantile, 36 300884
ALG13-CDG (Disorders of protein N-glycosylation)

OMIM

300776

Clinvar variants

Variants in ALG13

Penetrance

Complete

Publications

Panels with this gene