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
Bruck syndrome 2 609220
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.
This gene has been classified as Green List (High Evidence).
Publications for PLOD2 were set to 22689593
PLOD2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PLOD2 were set to Bruck syndrome 2 609220
PLOD2 was created by ellenmcdonagh
PLOD2 was added to Arthrogryposispanel. Sources: Expert list