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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GGCX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) | Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3); Mode of inheritance: ND | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450
OMIM
137167
Clinvar variants
Variants in GGCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GGCX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GGCX were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GGCX.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GGCX. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GGCX was added gene: GGCX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GGCX was set to