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| Pulmonary Arterial Hypertension v2.0 | BMP10 | Gene migrated from ENSG00000163217 to ENSG00000163217 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.59 | BMP10 | Chirag Patel reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 41882294; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.59 | BMP10 | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.59 | BMP10 | Chirag Patel edited their review of gene: BMP10: Added comment: PMID 41882294 included one individual with CHD-associated PAH and a heterozygous frameshift variant in BMP10 (p.Asn321Lysfs*6). The variant is absent from gnomAD v4.1.0 but classified as VUS, and has no segregation information or functional experiments.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.59 | BMP10 | Chirag Patel reviewed gene: BMP10: Rating: RED; Mode of pathogenicity: None; Publications: 41882294; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.56 | Bryony Thompson Added reviews for gene BMP10 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.27 | BMP10 | Zornitza Stark Phenotypes for gene: BMP10 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, BMP10-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.26 | BMP10 | Zornitza Stark Publications for gene: BMP10 were set to 30578383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.25 | BMP10 | Zornitza Stark reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29843651, 33187088, 31661308, 30578383; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.49 | BMP10 | Zornitza Stark Marked gene: BMP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.49 | BMP10 | Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.38 | BMP10 | Bryony Thompson Classified gene: BMP10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.38 | BMP10 | Bryony Thompson Gene: bmp10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.37 | BMP10 |
Bryony Thompson gene: BMP10 was added gene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP10 were set to 30578383 Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension Review for gene: BMP10 was set to AMBER Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients. Sources: Literature |
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