Cerebral vascular malformations
Gene: SMAD9
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
Multiple families reported.Created: 20 Mar 2022, 2:33 a.m. | Last Modified: 20 Mar 2022, 2:33 a.m.
Panel Version: 0.11639
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary hypertension, primary, 2 MIM#615342
Publications
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