Arthrogryposis
Gene: PLOD2

PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in at least seven families. Recognised on G2P as causing osteogenesis imperfect with contractures
Created: 22 Dec 2016, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 2 609220

Publications

22689593

Created: 22 Dec 2016, 3:58 p.m.

Panel version: 1.103

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Expert list

Phenotypes

Bruck syndrome 2 609220

OMIM

601865

Clinvar variants

Variants in PLOD2

Penetrance

Complete

Publications

22689593

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4