Rare genetic inflammatory skin disorders
Gene: GGCX
GGCX (gamma-glutamyl carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 5 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
Publications
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:GGCX; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
- OMIM
- 137167
- Clinvar variants
- Variants in GGCX
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Dec 2019, Gel status: 2
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY for gene: GGCX Publications for gene GGCX were changed from to 17110937
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: GGCX was added gene: GGCX was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal