Thoracic aortic aneurysm and dissection

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

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.55

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore this gene has been promoted from Red to Amber.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

James Eden (Manchester)

I don't know

Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve.
Created: 25 Sep 2019, 9:51 a.m. | Last Modified: 25 Sep 2019, 9:51 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Pathogenic variants cause kyphoscoliotic EDS, which has high risk of arterial rupture. EDS related genes where there is risk of arterial aneurysm/rupture appropriate for this panel
Created: 18 Sep 2019, 8:36 p.m. | Last Modified: 18 Sep 2019, 8:36 p.m.
Panel Version: 0.30

Phenotypes
OMIM 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1

Publications

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Green List (high evidence)

225400 Kyphoscoliotic Ehlers-Danlos syndrome
Created: 25 Mar 2019, 4:30 p.m.
Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Created: 30 Aug 2019, 10:11 a.m. | Last Modified: 30 Aug 2019, 10:11 a.m.
Panel Version: 0.10
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases, relevant phenotype
Created: 26 Jul 2017, 8:40 a.m.
Comment on list classification: Promoted to green in view of two positive reviews
Created: 26 Jul 2017, 8:40 a.m.
Sufficient unrelated cases to confirm the gene-disease relationship. Affected individuals are Marfanoid with a connective tissue phenotype, of which arterial rupture is reported. Appropriate for inclusion on both the EDS syndromes panel and FTAAD panel.
Created: 26 Jul 2017, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type VI 225400

Publications

Rebecca Foulger (Genomics England curator)

PLOD1 gene added to FTAAD panel as advised by reviewer of the Ehlers-Danlos syndrome (EDS) panel, Neeti Ghali.
Created: 25 Jul 2017, 2:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type VI, 225400; kyphoscoliotic EDS

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • kyphoscoliotic EDS
  • Ehlers-Danlos syndrome, type VI, 225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
None
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PLOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Nov 2019, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PLOD1. Source Expert Review Amber was added to PLOD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

30 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: plod1 has been classified as Red List (Low Evidence).

30 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: plod1 has been classified as Red List (Low Evidence).

18 Apr 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PLOD1 was added gene: PLOD1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI, 225400