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| Pulmonary Arterial Hypertension v1.31 | NOTCH3 | Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.30 | NOTCH3 | Zornitza Stark Tag disputed tag was added to gene: NOTCH3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.30 | NOTCH3 | Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.10 | NOTCH3 | Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.9 | NOTCH3 | Zornitza Stark Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.8 | NOTCH3 | Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.8 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.7 | NOTCH3 | Nicola Poplawski reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID:33712516, 24936512; Phenotypes: 125310; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.49 | NOTCH3 | Zornitza Stark Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.49 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.40 | NOTCH3 | Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.40 | NOTCH3 | Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.39 | NOTCH3 |
Bryony Thompson gene: NOTCH3 was added gene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512 Phenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension Mode of pathogenicity for gene: NOTCH3 was set to Other Review for gene: NOTCH3 was set to AMBER Added comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases. Sources: Literature |
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