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  3. ALG3
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Congenital disorders of glycosylation

Gene: ALG3

Green List (high evidence)
ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported, three as homozygotes and two as compound heterozygotes. Variant rs387906273 is synonymous, but shown to result in abnormal splicing and termination of translation and is therefore pathogenic
Created: 15 Dec 2016, 11:16 a.m.
Created: 15 Dec 2016, 11:16 a.m.

Panel version: 0.30

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 9 Dec 2016, 12:37 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
Tags
pathogenic-synonymous
OMIM
608750
Clinvar variants
Variants in ALG3
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

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ALG3 were set to Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)

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: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALG3 were set to 15108280; 19862844

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ALG3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

ALG3 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)

ALG3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ALG3 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ALG3 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)

ALG3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALG3 was created by sleigh