Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: MGAT2

Green List (high evidence)

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, 6:53 a.m. | Last Modified: 20 Dec 2020, 6:53 a.m.
Panel Version: 0.3320

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

20 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mgat2 has been classified as Green List (High Evidence).

20 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908

20 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MGAT2 were set to

20 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MGAT2 was added gene: MGAT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGAT2 was set to Unknown