01 Feb 2023
Early onset or syndromic epilepsy v3.30
ACOX1
Arina Puzriakova Tag Q3_21_MOI was removed from gene: ACOX1.
01 Feb 2023
Early onset or syndromic epilepsy v3.29
ACOX1
Arina Puzriakova commented on gene: ACOX1
01 Feb 2023
Early onset or syndromic epilepsy v3.28
ACOX1
Arina Puzriakova Mode of inheritance for gene ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
24 Oct 2022
Early onset or syndromic epilepsy v2.600
ACOX1
Arina Puzriakova Publications for gene: ACOX1 were set to 18536048
24 Oct 2022
Early onset or syndromic epilepsy v2.599
ACOX1
Arina Puzriakova Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; Mitchell syndrome, OMIM:618960
05 Jul 2021
Early onset or syndromic epilepsy v2.384
ACOX1
Ivone Leong edited their review of gene: ACOX1: Changed phenotypes to: Mitchell syndrome, OMIM:618960
05 Jul 2021
Early onset or syndromic epilepsy v2.384
ACOX1
Ivone Leong reviewed gene: ACOX1: Rating: ; Mode of pathogenicity: None; Publications: 32169171; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
05 Jul 2021
Early onset or syndromic epilepsy v2.384
ACOX1
Ivone Leong Tag Q3_21_MOI tag was added to gene: ACOX1.
05 Jul 2021
Early onset or syndromic epilepsy v2.384
ACOX1
Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
05 Jul 2021
Early onset or syndromic epilepsy v2.383
ACOX1
Ivone Leong Publications for gene: ACOX1 were set to 18536048
05 Jul 2021
Early onset or syndromic epilepsy v2.382
ACOX1
Ivone Leong Publications for gene: ACOX1 were set to 18536048
05 Jul 2021
Early onset or syndromic epilepsy v2.382
ACOX1
Ivone Leong Publications for gene: ACOX1 were set to
05 Jul 2021
Early onset or syndromic epilepsy v2.381
ACOX1
Ivone Leong Tag Q3_21_MOI was removed from gene: ACOX1.
05 Jul 2021
Early onset or syndromic epilepsy v2.381
ACOX1
Ivone Leong Deleted their review
05 Jul 2021
Early onset or syndromic epilepsy v2.381
ACOX1
Ivone Leong Deleted their comment
05 Jul 2021
Early onset or syndromic epilepsy v2.381
ACOX1
Ivone Leong Tag Q3_21_MOI tag was added to gene: ACOX1.
05 Jul 2021
Early onset or syndromic epilepsy v2.381
ACOX1
Ivone Leong reviewed gene: ACOX1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
06 Aug 2019
Early onset or syndromic epilepsy v1.191
ACOX1
Rebecca Foulger Source Wessex and West Midlands GLH was added to ACOX1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
ACOX1
Rebecca Foulger Source NHS GMS was added to ACOX1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
ACOX1
Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
ACOX1
Tracy Lester reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18536048; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Jul 2018
Early onset or syndromic epilepsy
ACOX1
Sarah Leigh marked gene: ACOX1 as ready
16 Jul 2018
Early onset or syndromic epilepsy
ACOX1
Sarah Leigh classified ACOX1 as Green List (high evidence)
29 Jun 2018
Early onset or syndromic epilepsy
ACOX1
Arianna Tucci reviewed gene: ACOX1
25 Jun 2018
Early onset or syndromic epilepsy
ACOX1
Sarah Leigh Added gene to panel