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  3. ACOX2
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Peroxisomal Disorders

Gene: ACOX2

Green List (high evidence)
ACOX2 (acyl-CoA oxidase 2)
EnsemblGeneIds (GRCh38): ENSG00000168306
EnsemblGeneIds (GRCh37): ENSG00000168306
OMIM: 601641, Gene2Phenotype
ACOX2 is in 3 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen General Inborn error of Metabolism GCEP on 25/07/2024 - https://search.clinicalgenome.org/CCID:004032

Reported in 6 probands with all reported probands having an inborn error of bile acid synthesis. LoF appears to be the mechanism of disease.
Created: 5 Aug 2024, 12:28 a.m. | Last Modified: 5 Aug 2024, 12:28 a.m.
Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital bile acid synthesis defect 6 MONDO:0015015

Publications

Created: 5 Aug 2024, 12:28 a.m.
Last Modified: 5 Aug 2024, 12:28 a.m.
Panel version: 0.53

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Third family reported.
Created: 14 Jul 2020, 8:29 a.m. | Last Modified: 14 Jul 2020, 8:29 a.m.
Panel Version: 0.2
Comment when marking as ready: Two unrelated families reported. The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Created: 15 Apr 2020, 8:28 p.m. | Last Modified: 15 Apr 2020, 8:30 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 6, 617308

Publications

Created: 15 Apr 2020, 8:28 p.m.
Last Modified: 15 Apr 2020, 8:30 p.m.
Panel version: 0.2

Anna Le Fevre (Victorian Clinical Genetics Services)

I don't know

Sources: Expert Review
Created: 15 Apr 2020, 12:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 6, 617308

Publications

Created: 15 Apr 2020, 12:55 p.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 6, 617308
OMIM
601641
Clinvar variants
Variants in ACOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACOX2 were set to 27647924; 27884763; 29287774

14 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACOX2 were set to 27647924; 27884763

14 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acox2 has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acox2 has been classified as Amber List (Moderate Evidence).

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acox2 has been classified as Amber List (Moderate Evidence).

15 Apr 2020, Gel status: 0

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

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: ACOX2 was added gene: ACOX2 was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX2 were set to 27647924; 27884763 Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308 Review for gene: ACOX2 was set to AMBER