Vitamin metabolism disorders

Gene: GGCX

Green List (high evidence)

GGCX (gamma-glutamyl carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 7 panels

0 reviews

Details

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

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GGCX was added gene: GGCX was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGCX were set to 32785662, 30531603, 26758921 Phenotypes for gene: GGCX were set to vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187; Other disorders of vitamin metabolism