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Prepair 1000+

Gene: AGXT

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

There is well established gene-disease association. Childhood onset, progressive disorder.
HGNC approved symbol/name: AGXT
Treatments available: haemodyalisis, combined liver/kidney transplant prevents crystal deposition and is curative. Clinical trial with lumasiran reported in PMID 33789010.
Created: 16 Jul 2024, 5:48 a.m. | Last Modified: 16 Jul 2024, 5:48 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type 1 MIM #259900

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900 (3)
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

25 Jul 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: AGXT were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hyperoxaluria, primary, type 1, 259900 (3) for gene: AGXT

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGXT was added gene: AGXT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)