Cerebral vascular malformations

Gene: SMAD9

Amber List (moderate evidence)

SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

New gene rated Amber- deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:45 p.m. | Last Modified: 29 Nov 2019, 3:45 p.m.
Panel Version: 1.61
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 29844917 suggests one case with cerebral AVMs and a supportive animal model - currently rated amber pending further evidence
Sources: Expert list
Created: 29 Nov 2019, 3:45 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
OMIM
603295
Clinvar variants
Variants in SMAD9
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SMAD9.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMAD9.

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: smad9 has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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