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
- id: ISCA-6099
- Date last evaluated: 2016-08-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PLOD1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5351
- OMIM: https://omim.org/entry/601451
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1462/?term=PLOD1
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: Not yet evaluated
Select assembly:
(NC_000001.10)
(NC_000001.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1
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