Ehlers Danlos syndromesGene: GGCX
Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.
Created: 11 Jun 2019, 11 a.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GGCX; Suggested initial gene rating: red
Created: 3 Apr 2019, 3:41 p.m.
Following discussion with Dr G Sobey & Dr F van Dijk - rate red
Created: 3 Apr 2019, 3:44 p.m.
Genes for PXE not required on this panel, phenoptype does not overlap sufficiently.
Created: 25 Jan 2019, 8:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pseudoxanthoma elasticum-like disorder
To be consistent with inclusion of ABCC6. 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.
Comment on list classification: changed form Red to Green due to recommendation from external expert review
Created: 10 Jul 2017, 2:28 p.m.
Comment on mode of inheritance: Inheritance: AD/AR/Digenic. Digenic inheritance (with ABCC6) has been reported in Pseudoxanthoma elasticum
Created: 7 May 2017, 12:56 p.m.
added tag pharmacogenetic- GGCX part of vitamin K metabolism and some variants have PXE (Pseudoxanthoma elasticum disorder) phenotype, some skeletal dysplasia, polymorphisms are used to predict warfarin metabolism (comment submitted by reviewer Anthony Vandersteen for the EDS panel)
Created: 7 May 2017, 12:50 p.m.
Tag curated_removed tag was added to gene: GGCX.
Gene: ggcx has been removed from the panel.
Source NHS GMS was added to GGCX. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Mode of inheritance for GGCX was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for GGCX was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for GGCX were set to Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842
Mode of inheritance for GGCX was changed to Other - please specifiy in evaluation comments
Publications for GGCX were set to 5936414; 7085873; 9845520; 17110937; 18800149; 19116367
Publications for GGCX were set to 5936414; 426915; 7085873; 9845520; 17110937; 18800149; 19116367
Publications for GGCX were set to 5936414; 426915; 7085873; 9845520; 17110937; 18800149; 19116367;
GGCX was created by ellenmcdonagh
GGCX was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen