ClinGen Dosage Sensitivity Curation Page
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