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Pulmonary arterial hypertension v2.9 AQP1 Nicholas Morrell reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v1.39 AQP1 Louise Daugherty commented on gene: AQP1: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: AQP1; Suggested initial gene rating: Amber; Evidence for inclusion: PMID: 29650961. Graf et al (2018); Evidence for exclusion: Only three families, no convincing functional evidence.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.38 AQP1 Louise Daugherty Source NHS GMS was added to AQP1.
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of AQP1
Pulmonary arterial hypertension AQP1 Louise Daugherty reviewed AQP1
Pulmonary arterial hypertension AQP1 Louise Daugherty classified AQP1 as Amber List (moderate evidence)
Pulmonary arterial hypertension AQP1 Louise Daugherty Added gene to panel