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  3. AGXT
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: AGXT

Green List (high evidence)
AGXT (alanine-glyoxylate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000172482
EnsemblGeneIds (GRCh37): ENSG00000172482
OMIM: 604285, Gene2Phenotype
AGXT is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene AGXT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperoxaluria, primary, type 1, MIM#259900 for gene: AGXT

23 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AGXT. Mode of inheritance for gene AGXT was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: AGXT was added gene: AGXT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 19479957; 10453743; PubMed: 1703535 Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900