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  3. AGXT
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Hereditary Neuropathy - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multi-system oxalate deposition including leading to neuropathy.
Sources: NHS GMS
Created: 30 Mar 2020, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type 1, MIM#259900

Created: 30 Mar 2020, 9:21 a.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
Tags
treatable clinical trial
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Panels with this gene

History Filter Activity

19 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag clinical trial tag was added to gene: AGXT.

19 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AGXT.

30 Mar 2020, 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).

30 Mar 2020, 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).

30 Mar 2020, Gel status: 1

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 Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900 Review for gene: AGXT was set to GREEN