ClinGen Dosage Sensitivity Curation Page

ACAD8

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)

Haploinsufficiency phenotype comments:

Biallelic loss of function mutations in ACAD8 result in autosomal recessive isobutyryl-CoA dehydrogenase deficiency. See PMIDs: 24635911, 20836999, 17924841, 17304052, 16857760, 15505379.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity