Ehlers Danlos syndromes

Gene: GGCX

No list

GGCX (gamma-glutamyl carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 5 panels

5 reviews

Eleanor Williams (Genomics England Curator)

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.

Duncan Baker (Sheffield Genetics)

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

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842
Tags
pharmacogenetics curated_removed
OMIM
137167
Clinvar variants
Variants in GGCX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: GGCX.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ggcx has been removed from the panel.

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GGCX. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GGCX was changed to BIALLELIC, autosomal or pseudoautosomal

10 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GGCX was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GGCX were set to Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842

7 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GGCX was changed to Other - please specifiy in evaluation comments

7 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GGCX were set to 5936414; 7085873; 9845520; 17110937; 18800149; 19116367

7 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GGCX were set to 5936414; 426915; 7085873; 9845520; 17110937; 18800149; 19116367

7 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GGCX were set to 5936414; 426915; 7085873; 9845520; 17110937; 18800149; 19116367;

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GGCX was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GGCX was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen