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  2. Kyphoscoliotic Ehlers-Danlos syndrome
  3. PLOD1
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Kyphoscoliotic Ehlers-Danlos syndrome

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 9 panels

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 May 2016, 7:29 a.m.

Panel version: 0.2

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Sourced from multiple sources of gene panels, and is on the eligibility prior genetic testing. It is a confirmed DD gene for Ehlers-Danlos syndrome, kyphoscoliotic form, has mutliple cases and different variants reported in OMIM for Ehlers-Danlos syndrome, type VI and has a green expert review.
Created: 6 Jun 2016, 3:13 p.m.
Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 11:38 a.m.
Created: 11 Jan 2016, 11:38 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Eligibility statement prior genetic testing
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  • Ehlers Danlos syndrome, type VI, 225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLOD1 was created by ellenmcdonagh

11 Jan 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD1 was added to Kyphoscoliotic Ehlers-Danlos syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Eligibility statement prior genetic testing,Other