Ehlers Danlos syndromes

Gene: PLOD3

Red List (low evidence)

PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 6 panels

3 reviews

Angela Brady (Nhs)

Red List (low evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Red List (low evidence)

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.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Lysyl hydroxylase 3 deficiency, 612394

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2017, Gel status: 0

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.

20 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PLOD3 were set to Lysyl hydroxylase 3 deficiency, 612394

29 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PLOD3 were set to 18834968

28 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PLOD3 was created by LouiseD

28 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PLOD3 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review