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  2. Cerebral vascular malformations
  3. SMAD9
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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

Created: 29 Nov 2019, 3:45 p.m.

Panel version: 1.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Amber
  • Expert list
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