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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies. One individual reported with immune dysfunction, and one with hydrops.
Created: 20 Dec 2020, 6:27 a.m. | Last Modified: 20 Dec 2020, 6:40 a.m.

Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908

Publications

Created: 20 Dec 2020, 6:27 a.m.
Last Modified: 20 Dec 2020, 6:40 a.m.
Panel version: 0.313

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIa, MIM# 212066
MGAT2-CDG, MONDO:0008908

OMIM

602616

Clinvar variants

Variants in MGAT2

Penetrance

None

Publications

Panels with this gene