PanelApp
  1. Genes and Genomic Entities
  2. GGCX

GGCX

gamma-glutamyl carboxylase
OMIM: 137167, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GGCX in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.1

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 2.588

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
  • pulmonary arterial hypertension MONDO:0015924

Green GGCX in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • vitamin K-dependent clotting factors, combined deficiency of, type 1, MONDO:0010187

Amber GGCX in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 2.3

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 1.1

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 2.7

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 1.0

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 2.0

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