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Molecular autopsy

Gene: AGA

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria
OMIM
613228
Clinvar variants
Variants in AGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Aspartylglucosaminuria for gene: AGA

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AGA was added gene: AGA was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 27604308 Phenotypes for gene: AGA were set to Aspartylglucosaminuria