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Genetic Epilepsy

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

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

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

History Filter Activity

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).

30 Sep 2020, Gel status: 3

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)

30 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG13 were set to

30 Sep 2020, Gel status: 3

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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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 Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG13 was set to Unknown