16 Apr 2021
Pulmonary arterial hypertension v2.10
AQP1
Ivone Leong Tag watchlist tag was added to gene: AQP1.
16 Apr 2021
Pulmonary arterial hypertension v2.10
AQP1
Ivone Leong reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
16 Apr 2021
Pulmonary arterial hypertension v2.10
AQP1
Ivone Leong Phenotypes for gene: AQP1 were changed from Heritable pulmonary arterial hypertension; HPAH to Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148
22 Mar 2021
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
06 Dec 2018
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
06 Dec 2018
Pulmonary arterial hypertension v1.38
AQP1
Louise Daugherty Source NHS GMS was added to AQP1.
03 Sep 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty edited their review of gene: AQP1
03 Sep 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty edited their review of gene: AQP1
16 Apr 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty edited their review of AQP1
16 Apr 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty reviewed AQP1
16 Apr 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty classified AQP1 as Amber List (moderate evidence)
16 Apr 2018
Pulmonary arterial hypertension
AQP1
Louise Daugherty Added gene to panel