Ehlers Danlos syndrome with a likely monogenic cause

Gene: GGCX

I don't know

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.

Red List (low evidence)

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

Phenotypes
Pseudoxanthoma elasticum-like disorder

Green List (high evidence)

Green List (high evidence)

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.