Congenital Disorders of Glycosylation

Gene: ALG13

Green List (high 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)

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

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

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Is (MIM# 300884)
OMIM
300776
Clinvar variants
Variants in ALG13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG13 were set to 22492991; 28887793; 26138355

30 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg13 has been classified as Green List (High Evidence).

15 Jul 2020, 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).

15 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG13 were changed from to Congenital disorder of glycosylation, type Is (MIM# 300884)

15 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG13 were set to 22492991; 28887793; 26138355

15 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG13 were set to

15 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

15 Jul 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG13 was added gene: ALG13 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG13 was set to Unknown