1. Panels
  2. Congenital disorders of glycosylation
  3. ALG8
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital disorders of glycosylation

Gene: ALG8

Green List (high evidence)
ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: MOI from Decipher
Created: 15 Dec 2016, 11:29 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported.
Created: 15 Dec 2016, 11:25 a.m.
Created: 15 Dec 2016, 11:25 a.m.

Panel version: 0.34

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 9 Dec 2016, 3:49 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ih 608104
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
OMIM
608103
Clinvar variants
Variants in ALG8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ALG8 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALG8 were set to 12480927; 15235028

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

ALG8 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ALG8 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ALG8 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ALG8 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG8 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALG8 was created by sleigh