GGCX

gamma-glutamyl carboxylase
OMIM: 137167, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GGCX in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450

Green GGCX in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450

Amber GGCX in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • pulmonary arterial hypertension MONDO:0015924

Green GGCX in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450

Green GGCX in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Tags
  • treatable
  • haematological

Green GGCX in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450

Green GGCX in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 1.6

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review 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