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
- id: ISCA-16594
- Date last evaluated: 2014-12-11
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ACAD8 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/27034
- OMIM: https://omim.org/entry/604773
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- See related regions:
- 11q23q25 terminal (Jacobsen syndrome) region
Select assembly:
(NC_000011.9)
(NC_000011.10)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
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