Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: ALG13

Green List (high evidence)

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

XLD EIEE37. Only females with this specific phenotype have been reported. The N107S variant has been reported in several unrelated individuals. In some of these shown to be de novo. No functional studies performed (OMIM). Imale reported with a variant K94E and had a congenital disorder of gycosylation - functionla studies showed decreased enzyme activity about 17% of wild type.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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
Epileptic encephalopathy, early infantile, 36, 300884; ?Congenital disorder of glycosylation, type Is, 300884

Publications

Amy McTague (UCL Institute of Child Health)

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; Infantile spasms and LGS

Publications

  • Ligt et al (2012) N Eng J Med 367: 1921-9
  • Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

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; Infantile spasms and LGS

Publications

  • Ligt et al (2012) N Eng J Med 367: 1921-9
  • Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

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; Infantile spasms and LGS

Publications

  • Ligt et al (2012) N Eng J Med 367: 1921-9
  • Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

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; Infantile spasms and LGS

Publications

  • Ligt et al (2012) N Eng J Med 367: 1921-9
  • Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Updated.
Created: 17 Dec 2015, 11:19 a.m.

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
OMIM
300776
Clinvar variants
Variants in ALG13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ALG13.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALG13.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ALG13. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALG13 were set to 23033978; 23934111

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ALG13 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ALG13 was created by Sarah Leigh