Early onset or syndromic epilepsy
Gene: ALG11
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
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
Can present with epileptic encephalopathyCreated: 27 Sep 2017, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ip 613661
Source Wessex and West Midlands GLH was added to ALG11.
Source NHS GMS was added to ALG11.
Arianna Tucci: Can present with epileptic enc
Victorian Clinical Genetics Services was added to ALG11. Panel: Genetic Epilepsy Syndromes
ALG11 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other
ALG11 was created by Sarah Leigh