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  2. Pulmonary Arterial Hypertension
  3. GGCX
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Pulmonary Arterial Hypertension

Gene: GGCX

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

MODERATE by ClinGen as noted by Bryony due to most variants being identified in a large cohort study.
Created: 8 Aug 2023, 5:28 a.m. | Last Modified: 8 Aug 2023, 5:28 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pulmonary arterial hypertension MONDO:0015924

Created: 8 Aug 2023, 5:28 a.m.
Last Modified: 8 Aug 2023, 5:28 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Moderate gene-disease validity classification by the pulmonary hypertension GCEP (4/11/2022). All the genetic evidence is based on one study conducting a gene-based association analysis using 812 European IPAH cases and 12,771 European controls. There were 18 probands with GGCX variants identified.
Sources: ClinGen
Created: 19 Jun 2023, 7:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pulmonary arterial hypertension MONDO:0015924

Publications

Created: 19 Jun 2023, 7:15 a.m.

Panel version: 1.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • pulmonary arterial hypertension MONDO:0015924
OMIM
137167
Clinvar variants
Variants in GGCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ggcx has been classified as Amber List (Moderate Evidence).

19 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ggcx has been classified as Amber List (Moderate Evidence).

19 Jun 2023, Gel status: 1

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 Pulmonary Arterial Hypertension. Sources: ClinGen Mode of inheritance for gene: GGCX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GGCX were set to 31727138 Phenotypes for gene: GGCX were set to pulmonary arterial hypertension MONDO:0015924 Review for gene: GGCX was set to AMBER