Epileptic encephalopathy
Gene: ALG13EnsemblGeneIds (GRCh38): ENSG00000101901
EnsemblGeneIds (GRCh37): ENSG00000101901
OMIM: 300776, Gene2Phenotype
ALG13 is in 8 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALG13 were set to Congenital disorder of glycosylation, type Is; Infantile spasms and LGS
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
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)
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)ALG13 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)ALG13 was added to Epileptic encephalopathypanel. Sources: UKGTN