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.

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