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.
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.