Congenital Disorders of Glycosylation
Gene: MGAT2
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
Publications for gene: MGAT2 were set to 8808595; 11228641; 22105986
Gene: mgat2 has been classified as Green List (High Evidence).
Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Publications for gene: MGAT2 were set to
Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: MGAT2 was added gene: MGAT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MGAT2 was set to Unknown