Congenital Disorders of Glycosylation

Gene: ALG13

Green List (high evidence)

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

• 23033978
• 23934111
• 24781210
• 24896178
• 25732998
• 26138355
• 26482601
• 28940310
• 32238909

Green List (high evidence)

Same variant described in
PMID: 23033978
PMID: 23934111
PMID: 24781210
PMID: 24896178
PMID: 25732998 - female with no reported glycosylation abnormalities
PMID: 26138355
PMID: 26482601
PMID: 28940310
PMID: 32238909

Created: 30 Sep 2020, 6 a.m. | Last Modified: 30 Sep 2020, 6 a.m.

Panel Version: 0.164

Phenotypes
Microcephaly; infantile spasms; developmental regression; hypotonia; epileptic encephalopathy; intellectual disability

Publications

• PMID: 31444733

I don't know

Amber rating

PMID: 22492991;
- 1x de novo p.(Lys94Glu) and enzymatic studies showed N-glycosylation defect

PMID: 28887793;
- 1x de novo p.(Asn107Ser) in a male (previously only girls have been reported with this variant). Authors described the proband to have 'near normal' glycosylation as transferrin IEF was normal but mass spectrometry lack of one glycan (~6–8% ref: <4%).

PMID: 26138355
- 1x female with p.(Asn107Ser) and transferrin showed normal levels but no mass spec was done

Created: 14 Jul 2020, 11:49 p.m. | Last Modified: 14 Jul 2020, 11:49 p.m.

Panel Version: 0.57

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

• 22492991
• 28887793
• 26138355