ClinGen Dosage Sensitivity Curation Page

MCEE

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

Variants in MCEE have been reported in association with Methylmalonyl-CoA epimerase deficiency, an autosomal recessive condition.

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