Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: ALG10

Red List (low evidence)

ALG10 (ALG10, alpha-1,2-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000139133
EnsemblGeneIds (GRCh37): ENSG00000139133
OMIM: 603313, Gene2Phenotype
ALG10 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Progressive myoclonus epilepsy; CDG



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Literature
  • Progressive myoclonus epilepsy
  • CDG
Clinvar variants
Variants in ALG10
Panels with this gene

History Filter Activity

8 Jan 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: ALG10 was added gene: ALG10 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red 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