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Inborn errors of metabolism

Gene: AGXT

Green List (high evidence)

AGXT (alanine-glyoxylate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000172482
EnsemblGeneIds (GRCh37): ENSG00000172482
OMIM: 604285, Gene2Phenotype
AGXT is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type I (Other peroxisomal disorders)
  • Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type 1
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AGXT. Source London North GLH was added to AGXT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: AGXT was added gene: AGXT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 27604308 Phenotypes for gene: AGXT were set to Primary hyperoxaluria type I (Other peroxisomal disorders); Primary hyperoxaluria type I (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type 1