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  2. Congenital Disorders of Glycosylation
  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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: Literature
Created: 25 Sep 2021, 1:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive myoclonus epilepsy; CDG

Publications

Created: 25 Sep 2021, 1:42 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
OMIM
603313
Clinvar variants
Variants in ALG10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related

25 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; 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