Skeletal dysplasia
Gene: PLOD2
OI and decreasing bone density gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2 609220
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PLOD2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:50 a.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2 609220
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Bruck syndrome 2 609220 for gene: PLOD2
Source NHS GMS was added to PLOD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PLOD2 were set to Bruck syndrome 2 609220
PLOD2 was added to Unexplained skeletal dysplasiapanel. Source: Expert PLOD2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory PLOD2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
PLOD2 was created by sleigh
PLOD2 was added to Unexplained skeletal dysplasiapanel. Sources: