Ehlers Danlos syndrome with a likely monogenic cause

Gene: PLOD1

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

Green List (high evidence)

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.

Green List (high evidence)

Green List (high evidence)

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.