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Newborns main panel

Gene: ACOX2

Green List (high evidence)
ACOX2 (acyl-CoA oxidase 2)
EnsemblGeneIds (GRCh38): ENSG00000168306
EnsemblGeneIds (GRCh37): ENSG00000168306
OMIM: 601641, Gene2Phenotype
ACOX2 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
ACOX2 curation results (clinicalgenome.org) Moderate
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital bile acid synthesis defect type 6
OMIM
601641
Clinvar variants
Variants in ACOX2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ACOX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ACOX2. Added phenotypes Congenital bile acid synthesis defect type 6 for gene: ACOX2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ACOX2. Added phenotypes Congenital bile acid synthesis defect type 6 for gene: ACOX2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ACOX2. Added phenotypes Congenital bile acid synthesis defect type 6 for gene: ACOX2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ACOX2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: ACOX2 was added gene: ACOX2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX2 were set to Congenital bile acid synthesis defect type 6