Early onset or syndromic epilepsy
Gene: ALG13
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
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
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.
Source Wessex and West Midlands GLH was added to ALG13.
Source NHS GMS was added to ALG13.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to ALG13. Panel: Genetic Epilepsy Syndromes
Publications for ALG13 were set to 23033978; 23934111
ALG13 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN
ALG13 was created by Sarah Leigh