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  3. AGXT
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Renal Tubulopathies and related disorders

Gene: AGXT

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, >100 unrelated families reported.
Created: 29 Jul 2021, 12:09 a.m. | Last Modified: 29 Jul 2021, 12:09 a.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type 1, MIM# 259900

Publications

Created: 29 Jul 2021, 12:09 a.m.
Last Modified: 29 Jul 2021, 12:09 a.m.
Panel version: Imported from Hyperoxaluria panel version 0.5

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert list
Created: 27 Nov 2019, 11:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type 1

Publications

Created: 27 Nov 2019, 11:07 p.m.

Panel version: Imported from Metabolic renal disease panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0009823
  • Hyperoxaluria, primary, type 1, MIM# 259900
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agxt has been classified as Green List (High Evidence).

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGXT was added gene: AGXT was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 10453743; 2039493; 1703535; 19479957 Phenotypes for gene: AGXT were set to MONDO:0009823; Hyperoxaluria, primary, type 1, MIM# 259900