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Intellectual_disability

Gene: AGA

Green List (high evidence)

AGA (aspartylglucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000038002
EnsemblGeneIds (GRCh37): ENSG00000038002
OMIM: 613228, Gene2Phenotype
AGA is in 9 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Aspartylglucosaminuria, 208400
  • Intellectual disability
OMIM
613228
Clinvar variants
Variants in AGA
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AGA was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AGA was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AGA was added to Intellectual_disabilitypanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGA was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory