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Pulmonary Arterial Hypertension v1.19 GGCX Zornitza Stark reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Marked gene: GGCX as ready
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Classified gene: GGCX as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.15 GGCX Bryony Thompson 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
Added comment: 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