PanelApp
  1. Genes and Genomic Entities
  2. GGCX

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 1.62

1 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 1.3512

1 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 1.45

2 reviews 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

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

2 reviews 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


Level 2: Screening
Version 0.20

0 reviews 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 1.7

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews 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