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Hereditary neuropathy NOT PMP22 copy number

Gene: ACOX1

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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. By contrast, bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apnoeic spells, delayed psychomotor development, and neurologic regression.
Sources: Literature
Created: 3 Aug 2020, 10:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mitchell syndrome, MIM# 618960

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

3 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ACOX1 was added gene: ACOX1 was added to Hereditary neuropathy NOT PMP22 copy number. 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 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN gene: ACOX1 was marked as current diagnostic