Ehlers Danlos syndromes

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

8 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Created: 18 Mar 2021, 1:55 p.m. | Last Modified: 18 Mar 2021, 1:55 p.m.
Panel Version: 2.37

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PLOD1; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

From Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225):
Recently, a number of rare autosomal recessive entities with distinct molecular and biochemical abnormalities that clinically overlap with kEDS have been described; kEDS due to PLOD1 mutations, kEDS due to FKBP14 mutations, the Brittle cornea syndrome (BCS) (ZNF469 and PRDM5), the spondylodysplastic form of EDS caused by SLC39A13 mutations (previously called spondylocheirodysplastic EDS), and musculocontractural EDS (CHST14 and DSE).
Created: 18 Apr 2017, 11:30 a.m.
Comment on publications: Numerous cases. Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225) : At present, 84 patients from 73 families with confirmed kEDS-PLOD1 either by demonstration of biallelic PLOD1 mutations or by urinary analysis have been identified eg: PMID: 9617436,9220536,15666309,9450904,8163671,25277362
Created: 18 Apr 2017, 11:29 a.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=PLOD1
Created: 18 Apr 2017, 11:06 a.m.
Comment on publications: Updated phenotypes in view of current nomenclature in OMIM and recent papers on EDS classification : The 2017 International Classification of the Ehlers–Danlos Syndromes. Malfait et al., 2017 (PMID:28306229) and Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225).
Created: 18 Apr 2017, 11:03 a.m.
In relation to the EDS pathogenetic scheme, PLOD1 belongs to 'Disorders of collagen folding and collagen cross-linking'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 18 Apr 2017, 9:56 a.m.
Comment on phenotypes: added synonyms
Created: 30 Mar 2017, 1:01 p.m.
This is a rare recessive form of EDS
Created: 30 Mar 2017, 11:21 a.m.

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Other
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PLOD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PLOD1 were set to 28306229;28306225;9617436;9220536;15666309;9450904;8163671;25277362

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PLOD1 were set to 28306229;28306225

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PLOD1 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PLOD1 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS; Ocular-Scoliotic EDS

30 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PLOD1 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS (kEDS-PLOD1);Ocular-Scoliotic EDS

30 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PLOD1 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS (kEDS-PLOD1)

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD1 was added to Ehlers-Danlos syndromespanel. Source: Eligibility statement prior genetic testing PLOD1 was added to Ehlers-Danlos syndromespanel. Source: Other

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD1 was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLOD1 was created by ellenmcdonagh