Cerebral vascular malformationsGene: SMAD9
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
Source Yorkshire and North East GLH was added to SMAD9.
Source NHS GMS was added to SMAD9.
Gene: smad9 has been classified as Amber List (Moderate Evidence).
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