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Epileptic encephalopathy

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

5 reviews

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
  • Expert Review Green
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
OMIM
300776
Clinvar variants
Variants in ALG13
Penetrance
Complete
Publications
  • Ligt et al (2012) N Eng J Med 367: 1921-9
  • Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALG13 were set to Congenital disorder of glycosylation, type Is; Infantile spasms and LGS

17 Dec 2015, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ALG13 were set to Ligt et al (2012) N Eng J Med 367: 1921-9; Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALG13 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ALG13 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ALG13 was added to Epileptic encephalopathypanel. Sources: UKGTN