Peroxisomal Disorders
Gene: ACOX1EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
- OMIM
- 609751
- Clinvar variants
- Variants in ACOX1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Peroxisomal Disorders
History Filter Activity
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: acox1 has been classified as Green List (High Evidence).
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)Mode of inheritance for gene: ACOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACOX1 was added gene: ACOX1 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACOX1 was set to Unknown