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Intellectual_disability

Gene: MGAT2

Red List (low evidence)

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

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIa, 212066
OMIM
602616
Clinvar variants
Variants in MGAT2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MGAT2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen