Likely inborn error of metabolism - targeted testing not possible
Gene: ALG13Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).Created: 12 Aug 2019, 12:54 p.m. | Last Modified: 12 Aug 2019, 1:13 p.m.
Panel Version: 1.85
Gene: alg13 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ALG13 were changed from Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 36 300884 to ?Congenital disorder of glycosylation, type Is 300884; Epileptic encephalopathy, early infantile, 36 300884
Source NHS GMS was added to ALG13. Source London North GLH was added to ALG13.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13 Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991
gene: ALG13 was added gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 27604308 Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation)