Pulmonary Arterial Hypertension
Gene: GGCX
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
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: ClinGenCreated: 19 Jun 2023, 7:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pulmonary arterial hypertension MONDO:0015924
Publications
Gene: ggcx has been classified as Amber List (Moderate Evidence).
Gene: ggcx has been classified as Amber List (Moderate Evidence).
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