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Childhood interstitial lung disease v0.5 BMPR2 Achchuthan Shanmugasundram commented on gene: BMPR2: BMPR2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.2 BMPR2 Achchuthan Shanmugasundram reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600, Pulmonary venoocclusive disease 1, OMIM:265450, pulmonary hypertension, primary, 1, MONDO:0024533, pulmonary venoocclusive disease 1, MONDO:0020713, Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.1 BMPR2 Achchuthan Shanmugasundram gene: BMPR2 was added
gene: BMPR2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600; pulmonary hypertension, primary, 1, MONDO:0024533; Pulmonary venoocclusive disease 1, OMIM:265450; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600; pulmonary venoocclusive disease 1, MONDO:0020713