Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: AOX1

Red List (low evidence)

AOX1 (aldehyde oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000138356
EnsemblGeneIds (GRCh37): ENSG00000138356
OMIM: 602841, Gene2Phenotype
AOX1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

No phenotype associated with this gene
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
Unknown

Phenotypes
Xanthinuria type II (Disorders of purine metabolism)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Xanthinuria type II (Disorders of purine metabolism)
OMIM
602841
Clinvar variants
Variants in AOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AOX1. Source London North GLH was added to AOX1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: AOX1 was added gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AOX1 was set to Unknown Publications for gene: AOX1 were set to 27604308 Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism)