ClinGen Dosage Sensitivity Curation Page
ACOX1
- Curation Status: Complete
- id: ISCA-30533
- Date last evaluated: 2014-11-20
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ACOX1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/51
- OMIM: https://omim.org/entry/609751
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK184570/?term=ACOX1
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.094
Select assembly:
(NC_000017.10)
(NC_000017.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Haploinsufficiency phenotype comments:
Biallelic loss of function mutations in ACOX1 cause autosomal recessive pseudo-neonatal adrenoleukodystrophy (acyl-CoA oxidase 1 deficiency). Many mutations have been reported, including large deletions, nonsense, and frameshift and heterozygous carriers are normal. See Carrozzo, 2008, PMID: 18536048; Ferdinandusse, 2007, PMID: 17458872; Rosewich, 2006, PMID: 16773508. Additionally, McMichael et al, (2014, PMID: 23695280) report a heterozygous 157 kb deletion involving several exons of ACOX1 in a patient with cerebral palsy. Parental samples were not available for testing and sequencing of the other allele was not performed.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity