Congenital disorders of glycosylation
Gene: ALG10Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least one terminating variant reported.Created: 26 Oct 2021, 3:47 p.m. | Last Modified: 26 Oct 2021, 3:47 p.m.
Panel Version: 2.77
Comment on list classification: Homozygous null ALG10 variant (NM_032834.4) c.1170_1171delAA (p.Lys391Valfs∗35) was found in a Turkish female, with frequent myoclonus (reported at 13 years), rare tonic-clonic seizure, ataxia, mild cognitive dysfunction (reported at 16 years) and scoliosis (PMID 33798445). PMID 33798445 also reports that a yeast alg10 deletion strain was used to re-express human wild-type and the variant ALG10 proteins for functional complementation. They found that while the yeast or human wild type strains resulted in mature reported protein, the variant strain resulted in hypo-glycosylated reporter protein.Created: 26 Oct 2021, 3:46 p.m. | Last Modified: 26 Oct 2021, 3:46 p.m.
Panel Version: 2.77
Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: LiteratureCreated: 11 Oct 2021, 7:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonus epilepsy; CDG
Publications
Gene: alg10 has been classified as Red List (Low Evidence).
gene: ALG10 was added gene: ALG10 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG10 were set to 33798445 Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG Review for gene: ALG10 was set to RED