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  3. ACOX1
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Childhood onset dystonia, chorea or related movement disorder

Gene: ACOX1

Green List (high evidence)
ACOX1 (acyl-CoA oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 12 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype from OMIM
Created: 7 Dec 2019, 8:39 p.m. | Last Modified: 7 Dec 2019, 8:39 p.m.
Panel Version: 0.109
Created: 7 Dec 2019, 8:39 p.m.
Last Modified: 7 Dec 2019, 8:39 p.m.
Panel version: 0.109

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM
Created: 6 Dec 2019, 5:29 p.m. | Last Modified: 6 Dec 2019, 5:29 p.m.
Panel Version: 0.27
Created: 6 Dec 2019, 5:29 p.m.
Last Modified: 6 Dec 2019, 5:29 p.m.
Panel version: 0.27

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

2 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, 264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, 264470

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ACOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ACOX1 was added gene: ACOX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ACOX1 was set to