Epidermolysis bullosa and congenital skin fragility

Gene: PLOD3

Amber List (moderate evidence)

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

1 review

Catherine Snow (Genomics England)

I don't know

PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth.
PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues.
As only two variants currently reported PLOD3 rated as Amber.
Created: 12 Dec 2019, 3:42 p.m. | Last Modified: 12 Dec 2019, 3:42 p.m.
Panel Version: 0.26
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:PLOD3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: PLOD3 were set to 30463024

12 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: PLOD3 were set to

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: PLOD3 was added gene: PLOD3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal