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Early onset or syndromic epilepsy v3.30 ACOX1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: ACOX1.
Early onset or syndromic epilepsy v3.29 ACOX1 Arina Puzriakova commented on gene: ACOX1
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
Early onset or syndromic epilepsy v2.600 ACOX1 Arina Puzriakova Publications for gene: ACOX1 were set to 18536048
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
Early onset or syndromic epilepsy v2.384 ACOX1 Ivone Leong edited their review of gene: ACOX1: Changed phenotypes to: Mitchell syndrome, OMIM:618960
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
Early onset or syndromic epilepsy v2.384 ACOX1 Ivone Leong Tag Q3_21_MOI tag was added to gene: ACOX1.
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
Early onset or syndromic epilepsy v2.383 ACOX1 Ivone Leong Publications for gene: ACOX1 were set to 18536048
Early onset or syndromic epilepsy v2.382 ACOX1 Ivone Leong Publications for gene: ACOX1 were set to 18536048
Early onset or syndromic epilepsy v2.382 ACOX1 Ivone Leong Publications for gene: ACOX1 were set to
Early onset or syndromic epilepsy v2.381 ACOX1 Ivone Leong Tag Q3_21_MOI was removed from gene: ACOX1.
Early onset or syndromic epilepsy v2.381 ACOX1 Ivone Leong Deleted their review
Early onset or syndromic epilepsy v2.381 ACOX1 Ivone Leong Deleted their comment
Early onset or syndromic epilepsy v2.381 ACOX1 Ivone Leong Tag Q3_21_MOI tag was added to gene: ACOX1.
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
Early onset or syndromic epilepsy v1.191 ACOX1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ACOX1.
Early onset or syndromic epilepsy v1.190 ACOX1 Rebecca Foulger Source NHS GMS was added to ACOX1.
Early onset or syndromic epilepsy v1.189 ACOX1 Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy ACOX1 Sarah Leigh marked gene: ACOX1 as ready
Early onset or syndromic epilepsy ACOX1 Sarah Leigh classified ACOX1 as Green List (high evidence)
Early onset or syndromic epilepsy ACOX1 Arianna Tucci reviewed gene: ACOX1
Early onset or syndromic epilepsy ACOX1 Sarah Leigh Added gene to panel