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  3. ALG13
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Fetal anomalies

Gene: ALG13

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

More than 10 families reported. Typical presentation is with refractory seizures at around 6 months of age and developmental delay.

Majority of affected individuals have been females. Microcephaly reported in a male patient.
Created: 30 Sep 2020, 9:38 a.m. | Last Modified: 30 Nov 2021, 1:26 a.m.
Panel Version: 0.827

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, 9:38 a.m.
Last Modified: 30 Nov 2021, 1:26 a.m.
Panel version: 0.827

Sarah Donoghue (Royal Children's Hospital)

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

Created: 30 Sep 2020, 6 a.m.
Last Modified: 30 Sep 2020, 6 a.m.
Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.164

Ain Roesley (Victorian Clinical Genetics Services)

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

Created: 14 Jul 2020, 11:49 p.m.
Last Modified: 14 Jul 2020, 11:49 p.m.
Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.57

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 Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Is (MIM# 300884)
  • Developmental and epileptic encephalopathy.
OMIM
300776
Clinvar variants
Variants in ALG13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg13 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES. to Congenital disorder of glycosylation, type Is (MIM# 300884); Developmental and epileptic encephalopathy.

30 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG13 were set to

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG13 was added gene: ALG13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ALG13 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES.