1. Panels
  2. Multiple joint dislocations and laxity
  3. PLOD1
STRs in panel
Prev Next
Regions in panel
Prev Next

Multiple joint dislocations and laxity

Gene: PLOD1

Green List (high evidence)
PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Review in PMID: 28306225: "A total of 139 mutations in PLOD1 have been identified in the 84 confirmed cases, of these there are 39 different mutations." It is included in The 2017 International Classification of the Ehlers-Danlos Syndromes (PMID: 28306229).
Created: 24 Apr 2022, 8:57 a.m. | Last Modified: 24 Apr 2022, 8:57 a.m.
Panel Version: 0.13257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400

Publications

Created: 24 Apr 2022, 8:57 a.m.
Last Modified: 24 Apr 2022, 8:57 a.m.
Panel version: Imported from Mendeliome panel version 0.13260

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes, Set publications

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to PLOD1. Added phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400 for gene: PLOD1 Publications for gene PLOD1 were updated from 1345174; 11001813 to 1345174; 11001813

12 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: PLOD1 was added gene: PLOD1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD1 were set to 1345174; 11001813 Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400