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  3. GGCX
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Combined vitamin K-dependent clotting factor deficiency

Gene: GGCX

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #277450) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:01 p.m. | Last Modified: 17 Dec 2025, 11:01 p.m.
Panel Version: 1.2
GGCX has been added to the panel for R123 Combined vitamin K-dependent clotting factor deficiency with a green rating as agreed with the NHS Genomic Medicine Service
Created: 30 Jun 2023, 11:46 a.m. | Last Modified: 30 Jun 2023, 11:46 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 11:46 a.m.
Last Modified: 30 Jun 2023, 11:46 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, OMIM:277450
  • vitamin K-dependent clotting factors, combined deficiency of, type 1, MONDO:0010187
OMIM
137167
Clinvar variants
Variants in GGCX
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GGCX were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 1, OMIM:277450; vitamin K-dependent clotting factors, combined deficiency of, type 1, MONDO:0010187

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GGCX was added gene: GGCX was added to Combined vitamin K-dependent clotting factor deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal