Epileptic encephalopathy
Gene: ALG13
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Updated.Created: 17 Dec 2015, 11:19 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for ALG13 were set to Congenital disorder of glycosylation, type Is; Infantile spasms and LGS
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
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)
The Gel status was updated for this whole panel
ALG13 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
ALG13 was added to Epileptic encephalopathypanel. Sources: UKGTN