Congenital disorders of glycosylation
Gene: MGAT2

MGAT2 (mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000168282
EnsemblGeneIds (GRCh37): ENSG00000168282
OMIM: 602616, Gene2Phenotype
MGAT2 is in 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q10469-1
Created: 9 Jan 2020, 2:38 p.m. | Last Modified: 9 Jan 2020, 2:38 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:38 p.m.
Last Modified: 9 Jan 2020, 2:38 p.m.
Panel version: 2.0

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 in four families.
Created: 19 Dec 2016, 10:25 a.m.

Created: 19 Dec 2016, 10:25 a.m.

Panel version: 0.83

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

19419693

Created: 13 Dec 2016, 11:27 a.m.

Panel version: 0.12

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 IIa 212066
N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)

OMIM

602616

Clinvar variants

Variants in MGAT2

Penetrance

Complete

Publications

19419693

Panels with this gene