ClinGen Dosage Sensitivity Curation Page
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