ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)

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