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| Pulmonary Arterial Hypertension v1.19 | SMAD9 | Zornitza Stark reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.1 | SMAD9 | Zornitza Stark Publications for gene: SMAD9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.0 | SMAD9 |
Elena Savva edited their review of gene: SMAD9: Added comment: Alt gene name SMAD8 gnomAD: pLI = 0. Most frequent NMD-pred PTC has 6 hets in the population, currently a VUS in ClinVar. PMID: 29844917 - NMD PTC in a 14 year old patient with brain arteriovenous malformation, resulted in reduced phosphorylation of downstream SMAD4. Zebrafish knockdown model showed abnormal cerebral artery-to-vein connection. PMID: 21920918 - NMD PTC in a patient with heritable pulmonary arterial hypertension. Functional studies on patient cells showed no significant effect in inducing miR-21, miR-27a or miR-100. ID1 (no OMIM) expression was significantly increased. PMID: 19211612 - NMD PTC in a patient, paternally inherited (also affected with pulmonary arterial hypertension). Functional studies show the protein could not interact with SMAD4, and reduced transcriptional activation activity.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Pulmonary Arterial Hypertension v1.0 | SMAD9 | Elena Savva reviewed gene: SMAD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29844917, 21920918, 19211612; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.51 | SMAD9 | Zornitza Stark Marked gene: SMAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.51 | SMAD9 | Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.17 | SMAD9 | Bryony Thompson Classified gene: SMAD9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.17 | SMAD9 | Bryony Thompson Gene: smad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.16 | SMAD9 |
Bryony Thompson gene: SMAD9 was added gene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342 Review for gene: SMAD9 was set to GREEN Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene. Sources: Expert list |
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