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Additional findings_Paediatric

Gene: AGXT

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type 1
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hyperoxaluria, primary, type 1 for gene: AGXT

27 Aug 2020, 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1