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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 |