Cerebral vascular malformations
Gene: SMAD9

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Only one article reporting one individual and functional assay supporting the gene disease association.

PMID: 29844917
14F who suffered from a haemorrhagic stroke due to recurrent brain AVMs. Genetic testing was conducted on a blood and tissue sample and they identified R284X (GRCh38) variant in SMAD9.
gnomAD v4.1 - 0.002% (not common enough for benign but not rare either)
A functional assay using transgenic zebrafish expressing green fluorescent protein in endothelial cells (Tg(kdrl:eGFP) showed the abnormal cerebral artery-to-vein connections with similar morphology to human AVMs.
Created: 19 Nov 2024, 6:05 a.m. | Last Modified: 19 Nov 2024, 6:05 a.m.

Panel Version: 0.39

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

Phenotypes
arteriovenous malformations of the brain MONDO:0007154

Publications

29844917

Created: 19 Nov 2024, 6:05 a.m.
Last Modified: 19 Nov 2024, 6:05 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Genomics England PanelApp
Expert Review Amber

OMIM

603295

Clinvar variants

Variants in SMAD9

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMAD9 was added gene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Cerebral vascular malformations Gene: SMAD9