Hereditary Spastic Paraplegia - paediatric
Gene: ACOX1

ACOX1 (acyl-CoA oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Cannot find evidence spastic paraplegia is feature of the condition associated with the gene. Spastic tetraplegia has been reported.
Created: 6 Mar 2020, 6:44 a.m. | Last Modified: 6 Mar 2020, 6:44 a.m.

Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisomal acyl-CoA oxidase deficiency MIM#264470

Publications

18536048

Created: 6 Mar 2020, 6:44 a.m.
Last Modified: 6 Mar 2020, 6:44 a.m.
Panel version: 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

Pseudoneonatal adrenoleukodystrophy

OMIM

609751

Clinvar variants

Variants in ACOX1

Penetrance

None

Publications

18536048

Panels with this gene

History Filter Activity

18 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acox1 has been classified as Red List (Low Evidence).

18 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACOX1 were set to

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACOX1 was added gene: ACOX1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Pseudoneonatal adrenoleukodystrophy

Hereditary Spastic Paraplegia - paediatric Gene: ACOX1