Early onset or syndromic epilepsy

Gene: ALG11

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)

Congenital disorders of glycosylation could characterized by elevated levels of disialo- and asialotransferrinat the expense of tetrasialotransferrin due to the loss of complete N-glycan chains on the transferrin protein backbone (this can be achived by isoelectric focusing). Pubmed 22213132AR congenital disorder of glycosylation type Ip - Rind et al, 2010 - 2 sibs born of consang parents - multisystem metabolic disorder incl seizures and death by 2 years - hom missense mutation. Thiel et al, 2012 - 3 unrelated patients - all had seizures - hom or compound het variants - all at conserved residues. Teneji et al, 2017 - 2 patients with ALG11 mutations - onr hom and one compound het.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip, 613661

Publications

• 20080937
• 22213132

Green List (high evidence)

Can present with epileptic encephalopathy

Created: 27 Sep 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip 613661