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Molecular autopsy

Gene: ALG6

Green List (high evidence)
ALG6 (ALG6, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000088035
EnsemblGeneIds (GRCh37): ENSG00000088035
OMIM: 604566, Gene2Phenotype
ALG6 is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
OMIM
604566
Clinvar variants
Variants in ALG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ALG6 was added gene: ALG6 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG6 were set to 27604308 Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)