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  3. ALG10
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Congenital disorders of glycosylation

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
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

Phenotypes
Progressive myoclonus epilepsy; CDG

Publications

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

Panel version: 2.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Progressive myoclonus epilepsy
  • CDG
OMIM
603313
Clinvar variants
Variants in ALG10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg10 has been classified as Red List (Low Evidence).

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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