Ehlers Danlos syndromesGene: PLOD3
Not sufficient evidence as yet. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.
Refer to clinical team for further discussion on wether we should include PLOD3 on the EDS panel. We are currently including FBN1 Marfan syndrome, which is also a disorder associated to the connective tissue. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.
Created: 7 Apr 2017, 3:27 p.m.
Comment on publications: Currently there are two cases (related sibs) that have been reported with Lysyl hydroxylase 3 deficiency, the novel connective tissue disorder is secondary to lysyl hydroxylase-3 (LH3) deficiency (PMID:18834968).
Created: 29 Mar 2017, 1:45 p.m.
Added PLOD3 from recommendation made by Raymond Dalgleish. This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=PLOD3. However, although there is evidence that variants in PLOD3 cause multi-system connective tissue disorder with features overlap with a number of known collagen disorders, currently there is not enough evidence to support PLOD3 being classified as a diagnostic Green gene for the EDS panel. PLOD3 is not referenced in the recent publication (2017 International Classification of the Ehlers–Danlos Syndromes) as being involved in EDS (or having any overlapping clinical features) PMID:28306229.
Created: 29 Mar 2017, 1:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Lysyl hydroxylase 3 deficiency, 612394
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for PLOD3 were set to Lysyl hydroxylase 3 deficiency, 612394
Publications for PLOD3 were set to 18834968
PLOD3 was created by LouiseD
PLOD3 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review