Regression
Gene: ACOX1
ACOX1 (acyl-CoA oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 15 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression.
Sources: LiteratureCreated: 14 Jul 2022, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mitchell syndrome, MIM# 618960
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mitchell syndrome, MIM# 618960
- OMIM
- 609751
- Clinvar variants
- Variants in ACOX1
- Penetrance
- None
- Publications
- 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
14 Jul 2022, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: acox1 has been classified as Green List (High Evidence).
14 Jul 2022, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: acox1 has been classified as Green List (High Evidence).
14 Jul 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: ACOX1 was added gene: ACOX1 was added to Regression. Sources: Literature Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 32169171; 35715200 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN