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Fetal anomalies v0.1486 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1485 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1464 BMPR2 Krithika Murali gene: BMPR2 was added
gene: BMPR2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 31382961
Phenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450
Penetrance for gene: BMPR2 were set to Incomplete
Review for gene: BMPR2 was set to AMBER
Added comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period.
Sources: Literature