ClinGen Dosage Sensitivity Curation Page

PLOD1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)

Haploinsufficiency phenotype comments:

Variants in PLOD1 have been associated with Ehlers-Danlos syndrome type VI, an autosomal recessive condition. Loss-of-function variants (in a homozygous or compound heterozygous state) appear to be commonly reported; see OMIM 153454 for additional information.

  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated