Early onset or syndromic epilepsy

Gene: ALG13

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

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

• 23033978
• 24501762

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

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

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

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

Comment on mode of inheritance: Updated.

Created: 17 Dec 2015, 11:19 a.m.