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  3. SMAD9
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Pulmonary Arterial Hypertension

Gene: SMAD9

Green List (high evidence)
SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 6 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 5:21 a.m. | Last Modified: 8 Aug 2023, 5:21 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension, primary, 2 MIM#615342

Created: 8 Aug 2023, 5:21 a.m.
Last Modified: 8 Aug 2023, 5:21 a.m.
Panel version: 1.19

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 11 Feb 2021, 1:08 a.m. | Last Modified: 11 Feb 2021, 1:08 a.m.
Panel Version: 1.0
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.
Created: 11 Feb 2021, 1:08 a.m. | Last Modified: 11 Feb 2021, 1:08 a.m.
Panel Version: 1.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary hypertension, primary, 2 MIM#615342

Publications

Created: 11 Feb 2021, 1:08 a.m.
Last Modified: 11 Feb 2021, 1:08 a.m.
Panel version: 1.0

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Created: 23 Jan 2020, 12:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary hypertension, primary, 2 MIM#615342

Created: 23 Jan 2020, 12:29 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary hypertension, primary, 2 MIM#615342
OMIM
603295
Clinvar variants
Variants in SMAD9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMAD9 were set to

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smad9 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smad9 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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