ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

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