Likely inborn error of metabolism

Gene: ALG10

Not 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

Red List (low evidence)

Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: Literature

Created: 11 Oct 2021, 7:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive myoclonus epilepsy; CDG

Publications

• 33798445