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Pulmonary arterial hypertension v1.46 ATP13A3 Louise Daugherty Publications for gene: ATP13A3 were set to 29650961
Pulmonary arterial hypertension v1.45 ATP13A3 Louise Daugherty commented on gene: ATP13A3: data has been replicated in the US PAH Biobank
Pulmonary arterial hypertension v1.45 ATP13A3 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI to reflect new data that a knock out mouse has a pulmonary vascular phenotype
Pulmonary arterial hypertension v1.45 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pulmonary arterial hypertension v1.44 ATP13A3 Louise Daugherty Added comment: Comment on mode of inheritance: changed back MOI until confirmation
Pulmonary arterial hypertension v1.44 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v1.43 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v1.42 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pulmonary arterial hypertension v1.41 ATP13A3 Anna de Burca reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary arterial hypertension v1.41 ATP13A3 Louise Daugherty edited their review of gene: ATP13A3: Changed rating: GREEN
Pulmonary arterial hypertension v1.39 ATP13A3 Louise Daugherty edited their review of gene: ATP13A3: Added comment: 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: ATP13A3; Suggested initial gene rating: Amber; Evidence for inclusion: PMID: 29650961 Graf et al (2018), further evidence from BRIDGE study (see PanelApp); Evidence for exclusion: BRIDGE evidence not yet published; data in Graf et al. not yet convincing.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: AMBER
Pulmonary arterial hypertension v1.38 ATP13A3 Louise Daugherty Source NHS GMS was added to ATP13A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty classified ATP13A3 as Green List (high evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty edited their review of gene: ATP13A3
Pulmonary arterial hypertension ATP13A3 Louise Daugherty classified ATP13A3 as Amber List (moderate evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty edited their review of ATP13A3
Pulmonary arterial hypertension ATP13A3 Louise Daugherty reviewed ATP13A3
Pulmonary arterial hypertension ATP13A3 Louise Daugherty Added gene to panel